keyword
https://read.qxmd.com/read/38573059/update-on-cancer-predisposition-syndromes-and-surveillance-guidelines-for-childhood-brain-tumors
#21
JOURNAL ARTICLE
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Tumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease aetiology increases. Some children with brain tumors may present with non-malignant phenotypic features of specific syndromes (e.g. nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch repair deficiency), while others may present with a strong family history of cancer (e...
April 4, 2024: Clinical Cancer Research
https://read.qxmd.com/read/38564676/pfcap-h-is-essential-for-assembly-of-condensin-i-complex-and-karyokinesis-during-asexual-proliferation-of-plasmodium-falciparum
#22
JOURNAL ARTICLE
Pratima Gurung, James P McGee, Jeffrey D Dvorin
UNLABELLED: Condensin I is a pentameric complex that regulates the mitotic chromosome assembly in eukaryotes. The kleisin subunit CAP-H of the condensin I complex acts as a linchpin to maintain the structural integrity and loading of this complex on mitotic chromosomes. This complex is present in all eukaryotes and has recently been identified in Plasmodium spp. However, how this complex is assembled and whether the kleisin subunit is critical for this complex in these parasites are yet to be explored...
April 2, 2024: MBio
https://read.qxmd.com/read/38564402/human-clinical-trials-using-topical-bakuchiol-formulations-for-the-treatment-of-skin-disorders-a-systematic-review
#23
JOURNAL ARTICLE
James E Fanning, Shayan A McGee, Omer I Ibrahim
BACKGROUND: Bakuchiol is a topical cosmeceutical marketed as a retinoid alternative. Human clinical trial data on bakuchiol’s efficacy for the treatment of dermatologic conditions has not been thoroughly evaluated. OBJECTIVE: To review human clinical trials using topical formulations containing bakuchiol in the treatment of facial skin disorders. MATERIALS AND METHODS: A comprehensive electronic search of Cochrane Library, PubMed, EMBASE, and Web of Science was conducted on August 28, 2022, using the search terms “bakuchiol” and “UP256...
April 1, 2024: Journal of Drugs in Dermatology: JDD
https://read.qxmd.com/read/38552658/clinical-and-biological-landscape-of-constitutional-mismatch-repair-deficiency-syndrome-an-international-replication-repair-deficiency-consortium-cohort-study
#24
JOURNAL ARTICLE
Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Zhihui Amy Liu, Logine Negm, Melissa Edwards, Vanessa Bianchi, Lucie Stengs, Jiil Chung, Abeer Al-Battashi, Agnes Reschke, Alex Lion, Alia Ahmad, Alvaro Lassaletta, Alyssa T Reddy, Amir F Al-Darraji, Amish C Shah, An Van Damme, Anne Bendel, Aqeela Rashid, Ashley S Margol, Bethany L Kelly, Bojana Pencheva, Brandie Heald, Brianna Lemieux-Anglin, Bruce Crooks, Carl Koschmann, Catherine Gilpin, Christopher C Porter, David Gass, David Samuel, David S Ziegler, Deborah T Blumenthal, Dennis John Kuo, Dima Hamideh, Donald Basel, Dong-Anh Khuong-Quang, Duncan Stearns, Enrico Opocher, Fernando Carceller, Hagit Baris Feldman, Helen Toledano, Ira Winer, Isabelle Scheers, Ivana Fedorakova, Jack M Su, Jaime Vengoechea, Jaroslav Sterba, Jeffrey Knipstein, Jordan R Hansford, Julieta Rita Gonzales-Santos, Kanika Bhatia, Kevin J Bielamowicz, Khurram Minhas, Kim E Nichols, Kristina A Cole, Lynette Penney, Magnus Aasved Hjort, Magnus Sabel, Maria Joao Gil-da-Costa, Matthew J Murray, Matthew Miller, Maude L Blundell, Maura Massimino, Maysa Al-Hussaini, Mazin F Al-Jadiry, Melanie A Comito, Michael Osborn, Michael P Link, Michal Zapotocky, Mithra Ghalibafian, Najma Shaheen, Naureen Mushtaq, Nicolas Waespe, Nobuko Hijiya, Noemi Fuentes-Bolanos, Olfat Ahmad, Omar Chamdine, Paromita Roy, Pavel N Pichurin, Per Nyman, Rachel Pearlman, Rebecca C Auer, Reghu K Sukumaran, Rejin Kebudi, Rina Dvir, Robert Raphael, Ronit Elhasid, Rose B McGee, Rose Chami, Ryan Noss, Ryuma Tanaka, Salmo Raskin, Santanu Sen, Scott Lindhorst, Sebastien Perreault, Shani Caspi, Shazia Riaz, Shlomi Constantini, Sophie Albert, Stanley Chaleff, Stefan Bielack, Stefano Chiaravalli, Stuart Louis Cramer, Sumita Roy, Suzanne Cahn, Suzanne Penna, Syed Ahmer Hamid, Tariq Ghafoor, Uzma Imam, Valerie Larouche, Vanan Magimairajan Issai, William D Foulkes, Yi Yen Lee, Paul C Nathan, Yosef E Maruvka, Mary-Louise C Greer, Carol Durno, Adam Shlien, Birgit Ertl-Wagner, Anita Villani, David Malkin, Cynthia Hawkins, Eric Bouffet, Anirban Das, Uri Tabori
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD. METHODS: In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries...
March 26, 2024: Lancet Oncology
https://read.qxmd.com/read/38551904/towards-personalised-anti-microbial-and-immune-approaches-to-infections-in-acute-care-can-real-time-genomic-informed-diagnosis-of-pathogens-and-immune-focused-therapies-improve-outcomes-for-patients-an-observational-experimental-study-protocol
#25
JOURNAL ARTICLE
Samuel Quarton, Kirsty McGee, Nicola Cumley, Mahboobeh Behruznia, Charlotte Jeff, Kylie Belchamber, Michael Cox, David Thickett, Aaron Scott, Dhruv Parekh, Alan McNally, Elizabeth Sapey
INTRODUCTION: Infection causes a vast burden of disease, with significant mortality, morbidity and costs to health-care systems. However, identifying the pathogen causative infection can be challenging, resulting in high use of broad-spectrum antibiotics, much of which may be inappropriate. Novel metagenomic methods have potential to rapidly identify pathogens, however their clinical utility for many infections is currently unclear. Outcome from infection is also impacted by the effectiveness of immune responses, which can be impaired by age, co-morbidity and the infection itself...
2024: PloS One
https://read.qxmd.com/read/38548988/a-single-cell-atlas-enables-mapping-of-homeostatic-cellular-shifts-in-the-adult-human-breast
#26
JOURNAL ARTICLE
Austin D Reed, Sara Pensa, Adi Steif, Jack Stenning, Daniel J Kunz, Linsey J Porter, Kui Hua, Peng He, Alecia-Jane Twigger, Abigail J Q Siu, Katarzyna Kania, Rachel Barrow-McGee, Iain Goulding, Jennifer J Gomm, Valerie Speirs, J Louise Jones, John C Marioni, Walid T Khaled
Here we use single-cell RNA sequencing to compile a human breast cell atlas assembled from 55 donors that had undergone reduction mammoplasties or risk reduction mastectomies. From more than 800,000 cells we identified 41 cell subclusters across the epithelial, immune and stromal compartments. The contribution of these different clusters varied according to the natural history of the tissue. Age, parity and germline mutations, known to modulate the risk of developing breast cancer, affected the homeostatic cellular state of the breast in different ways...
March 28, 2024: Nature Genetics
https://read.qxmd.com/read/38534937/the-rethinking-clinical-trials-program-retreat-2023-creating-partnerships-to-optimize-quality-cancer-care
#27
Ana-Alicia Beltran-Bless, Mark Clemons, Lisa Vandermeer, Khaled El Emam, Terry L Ng, Sharon McGee, Arif Ali Awan, Gregory Pond, Julie Renaud, Gwen Barton, Brian Hutton, Marie-France Savard
Patients, families, healthcare providers and funders face multiple comparable treatment options without knowing which provides the best quality of care. As a step towards improving this, the REthinking Clinical Trials (REaCT) pragmatic trials program started in 2014 to break down many of the traditional barriers to performing clinical trials. However, until other innovative methodologies become widely used, the impact of this program will remain limited. These innovations include the incorporation of near equivalence analyses and the incorporation of artificial intelligence (AI) into clinical trial design...
March 6, 2024: Current Oncology
https://read.qxmd.com/read/38532650/substance-use-treatment-completion-and-criminal-justice-system-contact-in-chile-a-retrospective-linked-data-cohort-study
#28
JOURNAL ARTICLE
Mariel Mateo Pinones, Andrés González-Santa Cruz, Alvaro Castillo-Carniglia, Christine Bond, Jason Payne, Tara Renae McGee
BACKGROUND AND AIMS: Substance use treatment (SUT) has shown to be effective in reducing self-reported offending; however, the association between SUT completion and criminal justice system (CJS) contact has been underexplored, especially in Latin America. This study aimed to estimate the association between SUT completion status and (1) any subsequent CJS contact and (2) CJS contact leading to imprisonment, at 1, 3 and 5 years post-discharge, in Chile. DESIGN: Retrospective cohort study using multivariable survival analysis based on linked administrative data from 2010 to 2019...
March 26, 2024: Addiction
https://read.qxmd.com/read/38528176/a-combination-nutritional-supplement-reduces-dna-methylation-age-only-in-older-adults-with-a-raised-epigenetic-age
#29
JOURNAL ARTICLE
Kirsty C McGee, Jack Sullivan, Jon Hazeldine, Lisa J Schmunk, Daniel E Martin-Herranz, Thomas Jackson, Janet M Lord
An increase in systemic inflammation (inflammaging) is one of the hallmarks of aging. Epigenetic (DNA methylation) clocks can quantify the degree of biological aging and this can be reversed by lifestyle and pharmacological intervention. We aimed to investigate whether a multi-component nutritional supplement could reduce systemic inflammation and epigenetic age in healthy older adults.We recruited 80 healthy older participants (mean age ± SD: 71.85 ± 6.23; males = 31, females = 49)...
March 26, 2024: GeroScience
https://read.qxmd.com/read/38527421/evaluation-of-a-pharmacist-led-workflow-for-the-fda-expanded-access-program
#30
JOURNAL ARTICLE
Blake T Barta, Ann McGee, Beth Mc Lendon Arvik, Tyler A Vest
DISCLAIMER: In an effort to expedite the publication of articles, AJHP is posting manuscripts online as soon as possible after acceptance. Accepted manuscripts have been peer-reviewed and copyedited, but are posted online before technical formatting and author proofing. These manuscripts are not the final version of record and will be replaced with the final article (formatted per AJHP style and proofed by the authors) at a later time. PURPOSE: This project aimed to characterize the resources necessary for pharmacists to support the required steps for obtaining and handling investigational drugs outside of a study protocol in the individual patient and intermediate-size population Expanded Access Program (EAP) processes...
March 25, 2024: American Journal of Health-system Pharmacy: AJHP
https://read.qxmd.com/read/38525755/hope-mediates-stress-to-reduce-burden-in-family-caregivers-of-persons-with-alzheimer-s-disease
#31
JOURNAL ARTICLE
Jocelyn Shealy McGee, Edward C Polson, Dennis R Myers, Angela McClellan, Rebecca Meraz, Weiming Ke, Holly Carlson Zhao
The experience of burden among family caregivers of persons with Alzheimer's disease and other forms of dementia may be deleterious for their health and well-being. Little is known, however, about the degree to which internal positive psychological resources, such as hope, influence burden perceptions in this population. The current study is novel in that it examined how multiple dimensions of hope, hope-agency and hope-pathway, influenced burden in a sample of one-hundred and fifty-five family caregivers of persons with Alzheimer's disease...
March 18, 2024: Geriatrics
https://read.qxmd.com/read/38523037/evaluating-the-use-of-adjuvant-and-neoadjuvant-terminology-in-bariatric-surgery-a-scoping-review
#32
REVIEW
Theo Sher, Michelle McGee, Christopher DuCoin, Joseph Sujka, Salvatore Docimo
BACKGROUND: Weight regain and inadequate weight loss are common after bariatric surgery. Literature is emerging regarding the use of pharmacotherapy with bariatric surgery as a potential solution to these adverse effects. Pharmacotherapy may be used before (neoadjuvant) or after (adjuvant) bariatric surgery, although this terminology has not been standardized. As a rapidly growing area of research, there is opportunity to standardize terminology for future ease of research, data synthesis, and communication...
March 15, 2024: Journal of Gastrointestinal Surgery
https://read.qxmd.com/read/38513161/cancer-treatment-disparities-in-people-with-hiv-in-the-united-states-2001-2019
#33
JOURNAL ARTICLE
Jennifer K McGee-Avila, Gita Suneja, Eric A Engels, Anne F Rositch, Marie-Josephe Horner, Qianlai Luo, Meredith S Shiels, Jessica Y Islam
PURPOSE: People with HIV (PWH) have worse cancer outcomes, partially because of inequities in cancer treatment. We evaluated cancer treatment disparities among PWH, including an assessment of changes in disparities over time. METHODS: We used data from the HIV/AIDS Cancer Match Study, a population-based HIV and cancer registry linkage to examine diffuse large B-cell lymphoma (DLBCL), Hodgkin lymphoma (HL), and cancers of the cervix, lung, anus, prostate, colon, and female breast...
March 21, 2024: Journal of Clinical Oncology
https://read.qxmd.com/read/38507194/adjuvant-and-neo-adjuvant-anti-obesity-medications-and-bariatric-surgery-a-scoping-review
#34
REVIEW
Theo Sher, Michelle McGee, Christopher DuCoin, Joseph Sujka, Salvatore Docimo
PURPOSE OF REVIEW: To comprehensively summarize the current body of literature on the topic of adjuvant and neoadjuvant pharmacotherapy used in combination with bariatric surgery. RECENT FINDINGS: Anti-obesity medications (AOMs) have been used since the mid-1900s; however, their use in combination with bariatric surgery is a newer area of research that is rapidly growing. Pharmacotherapy may be used before (neoadjuvant) or after (adjuvant) bariatric surgery. Recent literature suggests that adjuvant AOMs may address weight regain and inadequate weight loss following bariatric surgery...
March 20, 2024: Current Obesity Reports
https://read.qxmd.com/read/38499065/spine-surgeon-triage-of-new-patient-referrals-quantification-of-surgical-conversion-rate-by-clinic-referral-source
#35
JOURNAL ARTICLE
Zachary P French, Rajbir S Hundal, Anna C McGee, Alec E Winzenried, Seth K Williams
BACKGROUND CONTEXT: In an effort to efficiently deliver high-value spine surgical care, spine surgery clinics may triage new patient referrals. A triage system with attending surgeon review of referred patient images may improve the surgical conversion rate (SCR) of a spine surgical clinic, and shift the distribution of new patients in clinic toward those most likely to derive benefit from surgery. PURPOSE: To quantify SCR and number of triage steps by referral source in a tertiary referral spine clinic where all referrals are triaged by attending surgeons...
March 16, 2024: Spine Journal: Official Journal of the North American Spine Society
https://read.qxmd.com/read/38488196/atypical-teratoid-rhabdoid-tumour-tyr-subtype-arising-in-the-setting-of-germline-ring-chromosome-22-an-uncommon-form-of-tumour-predisposition
#36
JOURNAL ARTICLE
Julieann C Lee, Quynh T Tran, Rose B McGee, Melissa R Perrino, Santhosh A Upadhyaya, Emily M Hanzlik, Nicholas Pytel, Andrew J Carroll, Wilda Orisme, Mohammad Eldomery, Lu Wang, Patrick R Blackburn, Larissa V Furtado, Angela N Viaene, Minjie Luo, Jennifer M Kalish, Soniya N Pinto, Asim K Bag, Brent A Orr
No abstract text is available yet for this article.
April 2024: Neuropathology and Applied Neurobiology
https://read.qxmd.com/read/38484704/modular-vector-assembly-enables-rapid-assessment-of-emerging-crispr-technologies
#37
JOURNAL ARTICLE
Abby V McGee, Yanjing V Liu, Audrey L Griffith, Zsofia M Szegletes, Bronte Wen, Carolyn Kraus, Nathan W Miller, Ryan J Steger, Berta Escude Velasco, Justin A Bosch, Jonathan D Zirin, Raghuvir Viswanatha, Erik J Sontheimer, Amy Goodale, Matthew A Greene, Thomas M Green, John G Doench
The diversity of CRISPR systems, coupled with scientific ingenuity, has led to an explosion of applications; however, to test newly described innovations in their model systems, researchers typically embark on cumbersome, one-off cloning projects to generate custom reagents that are optimized for their biological questions. Here, we leverage Golden Gate cloning to create the Fragmid toolkit, a modular set of CRISPR cassettes and delivery technologies, along with a web portal, resulting in a combinatorial platform that enables scalable vector assembly within days...
March 13, 2024: Cell Genom
https://read.qxmd.com/read/38484701/fragmid-a-toolkit-for-rapid-assembly-and-assessment-of-crispr-technologies
#38
JOURNAL ARTICLE
Shondra M Pruett-Miller
The CRISPR toolbox continues to expand at a rapid pace, leaving researchers scrambling to assess the latest tools in their systems of interest. McGee et al.1 have developed a modular assembly platform with standardized and interchangeable components for rapid construction and deployment of novel CRISPR constructs.
March 13, 2024: Cell Genom
https://read.qxmd.com/read/38480916/p53-modulates-kinase-inhibitor-resistance-and-lineage-plasticity-in-nf1-related-mpnsts
#39
JOURNAL ARTICLE
Jamie L Grit, Lauren E McGee, Elizabeth A Tovar, Curt J Essenburg, Emily Wolfrum, Ian Beddows, Kaitlin Williams, Rachael T C Sheridan, Joshua L Schipper, Marie Adams, Menusha Arumugam, Thomas Vander Woude, Sharavana Gurunathan, Jeffrey M Field, Julia Wulfkuhle, Emanuel F Petricoin, Carrie R Graveel, Matthew R Steensma
Malignant peripheral nerve sheath tumors (MPNSTs) are chemotherapy resistant sarcomas that are a leading cause of death in neurofibromatosis type 1 (NF1). Although NF1-related MPNSTs derive from neural crest cell origin, they also exhibit intratumoral heterogeneity. TP53 mutations are associated with significantly decreased survival in MPNSTs, however the mechanisms underlying TP53-mediated therapy responses are unclear in the context of NF1-deficiency. We evaluated the role of two commonly altered genes, MET and TP53, in kinome reprograming and cellular differentiation in preclinical MPNST mouse models...
March 13, 2024: Oncogene
https://read.qxmd.com/read/38478164/validating-the-revised-mating-effort-questionnaire
#40
JOURNAL ARTICLE
Graham Albert, Adam Davis, Brian M Bird, Steven Arnocky, Jessica K Hlay, Nathan McGee, George B Richardson, Carolyn R Hodges-Simeon
The mating effort questionnaire (MEQ) is a multi-dimensional self-report instrument that captures factors reflecting individual effort in upgrading from a current partner, investment in a current partner, and mate seeking when not romantically paired. In the current studies, we sought to revise the MEQ so that it distinguishes among two facets of mate seeking-mate locating and mate attracting-to enable a more nuanced measurement and understanding of individual mating effort. Moreover, we developed additional items to better measure partner investment...
March 13, 2024: Archives of Sexual Behavior
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