Article
Medicine, Legal
Dong Qu, Peter Schurmann, Thomas Rothamel, Thilo Doerk, Michael Klintschar
Summary: Increasing evidence suggests that brain edema and variants of genes for cerebral water channels may be associated with SIDS. This study found a potential genetic role of the SUR1-TRPM4 complex in SIDS, but further studies are needed to confirm these initial results.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2022)
Review
Cell Biology
Ivan Alquisiras-Burgos, Javier Franco-Perez, Moises Rubio-Osornio, Penelope Aguilera
Summary: Sulfonylurea receptor (SUR) is a regulatory subunit associated with ion channels. It exists in both long and short forms, but the structure and function of the short forms, especially SUR1, are not well understood. Evidence suggests that the short forms of SUR1 are fully functional and can interact with channels. Their expression may have therapeutic implications in conditions where ATP concentrations decrease, such as stroke and epilepsy.
NEURAL REGENERATION RESEARCH
(2022)
Article
Neurosciences
Ivan Alquisiras-Burgos, Arturo Hernandez-Cruz, Irlanda Peralta-Arrieta, Penelope Aguilera
Summary: The SUR1-TRPM4-AQP4 complex is overexpressed in the initial phase of edema induced after cerebral ischemia, allowing the massive internalization of Na+ and water within the brain micro endothelial cells (BMEC) of the blood-brain barrier. Resveratrol (RSV) can prevent cellular edema formation through modulation of SUR1 expression.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Endocrinology & Metabolism
Amin Bakhtiyari, Karimeh Haghani, Salar Bakhtiyari, Mohammad Ali Zaimy, Ali Noori-Zadeh, Ali Gheysarzadeh, Shahram Darabi, Ali Seidkhani-Nahal, Mansour Amraei, Iraj Alipourfard
Summary: This study investigated the association between the Ala1369Ser ABCC8 genetic variation and type 2 diabetes in the Kurdish population of western Iran. The results showed that the polymorphism of ABCC8 is associated with an increased risk of T2DM in this population.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2021)
Article
Critical Care Medicine
Ruchira M. Jha, Stefania Mondello, Helen M. Bramlett, C. Edward Dixon, Deborah A. Shear, W. Dalton Dietrich, Kevin K. W. Wang, Zhihui Yang, Ronald L. Hayes, Samuel M. Poloyac, Philip E. Empey, Audrey D. Lafrenaye, Hong Q. Yan, Shaun W. Carlson, John T. Povlishock, Janice S. Gilsdorf, Patrick M. Kochanek
Summary: Glibenclamide (GLY) showed the greatest benefit in controlled cortical impact (CCI) model, with positive effects on motor and neuropathological outcomes.
JOURNAL OF NEUROTRAUMA
(2021)
Article
Critical Care Medicine
Benjamin E. E. Zusman, Yijen Wu, Patrick M. M. Kochanek, Vincent E. E. Vagni, Keri Janesko-Feldman, Volodymyr Gerzanich, J. Marc Simard, Katherine Karahalios, Sandra Mihaljevic, Sudhanshu Raikwar, Anupama Rani, Jarrod Rulney, Shashvat M. M. Desai, Joshua Catapano, Ruchira M. M. Jha
Summary: This study evaluated the differential effects of glibenclamide on dose, TBI type, and imaging endophenotype. High-dose glibenclamide showed benefits in reducing hematoma volume, vasogenic edema, cytotoxic edema, and maintaining blood-brain barrier integrity after isolated brain contusion. However, its anti-edema effects were not robust in the presence of concomitant hemorrhagic shock.
CRITICAL CARE MEDICINE
(2023)
Article
Biotechnology & Applied Microbiology
Nicholas P. Howard, Michela Troggio, Charles-Eric Durel, Helene Muranty, Caroline Denance, Luca Bianco, John Tillman, Eric van de Weg
Summary: This study assessed the concordance and accuracy of Illumina Infinium and Affymetrix Axiom SNP array data in apple genomes. The majority of the data was found to be compatible, although intense data filtering and curation were required for data integration. This in-depth analysis may provide valuable insights for future work on SNP array data integration and interpretation, as well as for probe/platform development.
Article
Immunology
Jessica Cummings, Yijen L. Wu, C. Edward Dixon, Jeremy Henchir, J. Marc Simard, Ashok Panigrahy, Patrick M. Kochanek, Ruchira M. Jha, Rajesh K. Aneja
Summary: SABI is characterized by acute mental deterioration and functional limitations in sepsis survivors. The SUR1 gene may play a crucial role in the development of cerebral edema, and knockout of this gene can improve neurobehavioral outcomes in a mouse model of sepsis.
JOURNAL OF NEUROINFLAMMATION
(2023)
Article
Endocrinology & Metabolism
Dara Aldisi, Mohammed G. A. Ansari, Syed Danish Hussain, Abdulrahman Al-Matary, Fahima Mohamad AlSomali, Reem Ibrahem Alturaif, Ihtisham Bukhari
Summary: Diabetes Mellitus (DM) is a common disorder affecting people of all ages, and the rates of gestational diabetes mellitus (GDM) and neonatal diabetes mellitus (NDM) are increasing. However, the genetic causes and relationship between GDM and NDM are not yet established, especially in the Arab population. This study explored the prevalence of ABCC8 and KCNJ11 variants in Saudi neonates and analyzed the influence of parental diabetes and GDM on NDM.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2023)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Article
Medicine, General & Internal
Ruchira M. Jha, Benjamin E. Zusman, Ava M. Puccio, David O. Okonkwo, Matthew Pease, Shashvat M. Desai, Matthew Leach, Yvette P. Conley, Patrick M. Kochanek
Summary: This study identified genetic variations in ABCC8 and TRPM4 associated with intraparenchymal hemorrhage progression after severe TBI. Specific SNVs were found to be significantly associated with increased risk of progression, while others were associated with decreased risk. The inclusion of genetic variation in clinical models improved prediction accuracy, suggesting potential implications for precision medicine in severe TBI.
Article
Health Care Sciences & Services
Dinara Ivanoshchuk, Elena Shakhtshneider, Svetlana Mikhailova, Alla Ovsyannikova, Oksana Rymar, Emil Valeeva, Pavel Orlov, Mikhail Voevoda
Summary: The greatest difficulties in differential diagnosis of diabetes mellitus lie in young patients due to the various types of diabetes that can occur in this age group. This study used next-generation sequencing technology to identify gene mutations associated with maturity-onset diabetes of the young (MODY). Several known and novel mutations were identified in MODY-associated genes, highlighting the importance of next-generation sequencing in diagnosing rare MODY subtypes.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Agriculture, Dairy & Animal Science
Peng Wang, Wentao Li, Ziyi Liu, Xiaoyun He, Rong Lan, Yufang Liu, Mingxing Chu
Summary: This study analyzed the association between PPP2R5C and SLC39A5 gene polymorphisms and litter size in Yunshang black goats. The results showed that the polymorphisms PPP2R5C g.65977743C>T and SLC39A5 g.50676693T>C were significantly associated with the litter size of the third parity in Yunshang black goats. Further experiments confirmed that individuals with CC genotype of PPP2R5C and TT genotype of SLC39A5 had higher expression of these genes in goat ovarian tissues. These findings provide new insights into candidate gene selection for marker-assisted selection in goats.
Article
Cell Biology
Giuseppe Silvestri, Carla Canedo-Ribeiro, Maria Serrano-Albal, Remi Labrecque, Patrick Blondin, Steven G. Larmer, Gabriele Marras, Desmond A. R. Tutt, Alan H. Handyside, Marta Farre, Kevin D. Sinclair, Darren K. Griffin
Summary: The study demonstrated that screening for aneuploid embryos using PGT-A can significantly improve pregnancy and live birth rates in cattle IVP programs. Analyzing 1713 cattle embryos revealed that aneuploid embryos have lower chances of establishing pregnancies and giving rise to live births compared to euploid embryos.
Article
Biochemistry & Molecular Biology
Hui-Jeong An, Sung-Hwan Cho, Han-Sung Park, Ji-Hyang Kim, Young-Ran Kim, Woo-Sik Lee, Jung-Ryeol Lee, Seong-Soo Joo, Eun-Hee Ahn, Nam-Keun Kim
Summary: This study investigated the genetic association between recurrent pregnancy loss (RPL) and microRNA (miRNA) polymorphisms in miR-10aA>T, miR-30cA>G, miR-181aT>C, and miR-499bA>G in Korean women. The study identified specific genotypes of miR-10a and miR-499 that are associated with increased RPL risk.
Review
Anesthesiology
Thanyalak Thamjamrassri, Kornkamon Yuwapattanawong, Phuriphong Chanthima, Monica S. Vavilala, Abhijit V. Lele
Summary: This study reviewed the literature on EVD placement and management and surveyed US hospital practices and policies. The findings suggest that there is a focus on reducing EVD-associated infections, but overall adherence to guideline recommendations is modest.
JOURNAL OF NEUROSURGICAL ANESTHESIOLOGY
(2022)
Review
Pharmacology & Pharmacy
Laura B. Ramsey, Li Gong, Seung-Been Lee, Jonathan B. Wagner, Xujia Zhou, Katrin Sangkuhl, Solomon M. Adams, Robert J. Straka, Philip E. Empey, Erin C. Boone, Teri E. Klein, Mikko Niemi, Andrea Gaedigk
Summary: PharmVar provides star allele nomenclature for the SLCO1B1 gene, which plays an important role in drug transport and metabolism. The standardized nomenclature has been adopted by CPIC and incorporated into guidelines.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Pharmacology & Pharmacy
Larisa H. H. Cavallari, Nita A. A. Limdi, Amber L. L. Beitelshees, James C. C. Lee, Julio D. D. Duarte, Francesco Franchi, Sony Tuteja, Jay Giri, Philip E. E. Empey, Rolf P. P. Kreutz, Todd C. C. Skaar, John M. M. Allen, James C. C. Coons, Yan Gong, Caitrin W. W. McDonough, James M. M. Stevenson, Cameron D. D. Thomas, Julie A. A. Johnson, George A. A. Stouffer, Dominick J. J. Angiolillo, Craig R. Lee
Summary: Black patients and White patients have similar rates of P2Y(12) inhibitor prescribing after genotype-guided antiplatelet therapy selection following percutaneous coronary intervention (PCI).
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Pharmacology & Pharmacy
Susanne B. Haga, Wendy K. Chung, Luis A. Cubano, Timothy B. Curry, Philip E. Empey, Geoffrey S. Ginsburg, Kara Mangold, Christina Y. Miyake, Siddharth K. Prakash, Laura B. Ramsey, Robb Rowley, Carolyn R. Rohrer Vitek, Todd C. Skaar, Julia Wynn, Teri A. Manolio
Summary: The fields of genetics and genomics have expanded in medicine, revealing genetic contributions to various traits and diseases. To ensure timely and appropriate utilization of this knowledge in patient care, accessible and sustainable online education resources are needed for healthcare providers. The National Human Genome Research Institute called for proposals in 2020 to develop such resources, and this paper describes the efforts of six awarded teams to meet this goal.
PERSONALIZED MEDICINE
(2023)
Review
Clinical Neurology
Ruchira M. Jha, J. Marc Simard
Article
Biochemistry & Molecular Biology
Jesse A. Stokum, Bosung Shim, Serban Negoita, Natalya Tsymbalyuk, Orest Tsymbalyuk, Svetlana Ivanova, Kaspar Keledjian, Joseph Bryan, Mordecai P. Blaustein, Ruchira M. Jha, Kristopher T. Kahle, Volodymyr Gerzanich, J. Marc Simard
Summary: Brain swelling, caused by water influx into perivascular astrocytes through aquaporins, can be reduced by targeting channels in astrocyte endfeet. In a mouse model of severe ischemic stroke, the abundance of SUR1-TRPM4 and NCX1 in perivascular astrocytic endfeet was increased, leading to the translocation of AQP4 to the plasma membrane and subsequent water accumulation, resulting in cellular edema and brain swelling. Inhibition or deletion of SUR1-TRPM4 or NCX1 reduced brain swelling and improved neurological function in mice, independent of infarct size.
Review
Clinical Neurology
Nils H. Petersen, Kevin N. Sheth, Ruchira M. Jha
Summary: Scientific advances have improved acute stroke care but also highlighted the complexity and diversity of cerebrovascular diseases. Personalized stroke care traditionally relies on clinical examinations, neuroimaging studies, and physiologic monitoring. However, to fully implement precision medicine in stroke, advancements are needed in data capture, clinical phenotyping, serum biomarker development, neuromonitoring, and physiology-based treatment targets.
Editorial Material
Clinical Neurology
Ruchira M. Jha, Kevin N. Sheth
Review
Pharmacology & Pharmacy
James C. Coons, Philip Empey
Summary: Pulmonary arterial hypertension (PAH) is a rare disease that can lead to right ventricular failure and death if left untreated. There are currently 10 approved medications for treatment, but variability in dosing requirements and treatment response is evident, leading to suboptimal outcomes for many patients. Pharmacogenomic associations have been reported with certain PAH medications, explaining some of the variability in response.
PHARMACOGENOMICS & PERSONALIZED MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
James C. C. Coons, James M. M. Stevenson, Ami Patel, A. J. Conrad Smith, Linda Prebehalla, Philip E. E. Empey
Summary: This study aimed to investigate the impact of CYP2C19 genotyping on bleeding in patients receiving antiplatelet therapy. The results showed that high-potency antiplatelet agents were associated with an increased risk of bleeding in the overall population and in non-carriers of CYP2C19 genetic variants. The study suggests the need for further exploration of genotype-guided antiplatelet de-escalation in prospective studies.
JOURNAL OF CARDIOVASCULAR PHARMACOLOGY AND THERAPEUTICS
(2022)
Meeting Abstract
Critical Care Medicine
Jonathan Birabaharan, Jeremy Henchir, Raymond West, Thomas Nolin, Philip Empey, Shaun Carlson
JOURNAL OF NEUROTRAUMA
(2022)
Article
Education, Scientific Disciplines
Roseann S. Gammal, Yee Ming Lee, Natasha J. Petry, Otito Iwuchukwu, James M. Hoffman, David F. Kisor, Philip E. Empey
Summary: Genomics is increasingly important in healthcare, and pharmacists are well-positioned to be leaders in pharmacogenomics and precision medicine. Competencies provided by the Genetics/Genomics Competency Center offer a framework for pharmacogenomics education in pharmacy schools and continuing education programs. The American Association of Colleges of Pharmacy Pharmacogenomics Special Interest Group updated pharmacist competencies to reflect the advancements in pharmacogenomics, ensuring that pharmacists are equipped to apply pharmacogenomics in clinical practice. Additional postgraduate training is necessary for advanced roles in pharmacogenomics implementation, education, and research.
AMERICAN JOURNAL OF PHARMACEUTICAL EDUCATION
(2022)
Article
Pharmacology & Pharmacy
Christine M. Formea, April J. Schultz, Philip E. Empey
Summary: As the healthcare community aims to address health disparities, pharmacogenomics provides a unique opportunity to overcome barriers and achieve equitable healthcare.
JOURNAL OF THE AMERICAN COLLEGE OF CLINICAL PHARMACY
(2022)
Meeting Abstract
Critical Care Medicine
Oluwasinmisola Opeyemi, Karryn Crisamore, Jonathan Pelletier, Jaskaran Rakkar, Alicia Au, Philip E. Empey, Robert Clark, Christopher Horvat
CRITICAL CARE MEDICINE
(2022)
Meeting Abstract
Critical Care Medicine
Jonathan Birabaharan, Raymond E. West, Thomas D. Nolin, Chani Traube, Michael Bell, Philip E. Empey
CRITICAL CARE MEDICINE
(2022)