keyword
https://read.qxmd.com/read/38713018/trisomy-8-defines-a-distinct-subtype-of-myeloproliferative-neoplasms-driven-by-the-myc-alarmin-axis
#21
JOURNAL ARTICLE
Nicole D Vincelette, Xiaoqing Yu, Andrew T Kuykendall, Jungwon Moon, Siyuan Su, Chia-Ho Cheng, Rinzine Sammut, Tiffany N Razabdouski, Hai Vu Nguyen, Erika A Eksioglu, Onyee Chan, Najla Al Ali, Parth C Patel, Dae Hyun Lee, Shima Nakanishi, Renan B Ferreira, Elizabeth Hyjek, Qianxing Mo, Suzanne Cory, Harshani R Lawrence, Ling Zhang, Daniel J Murphy, Rami S Komrokji, Daesung Lee, Scott H Kaufmann, John L Cleveland, Seongseok Yun
Despite advances in understanding the genetic abnormalities in myeloproliferative neoplasms (MPNs) and the development of JAK2 inhibitors, there is an urgent need to devise new treatment strategies, particularly for triple negative myelofibrosis (MF) patients who lack mutations in the JAK2 kinase pathway and have very poor clinical outcomes. Here we report that MYC copy number gain and increased MYC expression frequently occur in triple negative MF, and that MYC-directed activation of S100A9, an alarmin protein that plays pivotal roles in inflammation and innate immunity, is necessary and sufficient to drive development and progression of MF...
May 7, 2024: Blood cancer discovery
https://read.qxmd.com/read/38712941/the-association-between-task-complexity-and-cortical-language-mapping-accuracy
#22
JOURNAL ARTICLE
Alexa Semonche, Anthony Lee, Mikias B Negussie, Vardhaan S Ambati, Alexander A Aabedi, Jasleen Kaur, Mulki Mehari, Mitchel S Berger, Shawn L Hervey-Jumper
BACKGROUND AND OBJECTIVES: Direct cortical stimulation (DCS) mapping enables the identification of functional language regions within and around gliomas before tumor resection. Intraoperative mapping is required because glioma-infiltrated cortex engages in synchronous activity during task performance in a manner similar to normal-appearing cortex but has decreased ability to encode information for complex tasks. It is unknown whether task complexity influenced DCS mapping results. We aim to understand correlations between audiovisual picture naming (PN) task complexity and DCS error rate...
May 7, 2024: Neurosurgery
https://read.qxmd.com/read/38712914/the-rationale-behind-grafting-haploidentical-hematopoietic-stem-cells
#23
REVIEW
Richard T Maziarz, Rachel J Cook
The ability to perform hematopoietic cell transplant across major histocompatibility complex barriers can dramatically increase the availability of donors and allow more patients across the world to pursue curative transplant procedures for underlying hematologic disorders. Early attempts at haploidentical transplantation using broadly reactive T-cell depletion approaches were compromised by graft rejection, graft-versus-host disease and prolonged immune deficiency. The evolution of haploidentical transplantation focused on expanding transplanted hematopoietic progenitors as well as using less broadly reactive T-cell depletion...
December 2024: Hematology (Amsterdam, Netherlands)
https://read.qxmd.com/read/38712890/nutrition-support-carbohydrate-feeding-and-insulin-sensitivity-in-the-critically-ill-patient-a-complex-relationship
#24
JOURNAL ARTICLE
Ra'eesa Doola, Claire Dupuis, Jean-Charles Preiser
PURPOSE OF REVIEW: This review aims to summarize recent studies that highlight the complex relationship between nutrition, carbohydrate, insulin provision and glycaemic control in the critically ill patient population. RECENT FINDINGS: Results of observational studies concur to support early hypoglycaemia and persisting hyperglycaemia as life-threatening events. In contrast, interventional studies indicate that early macronutrient restriction appears to reduce the benefits related to insulin therapy...
May 8, 2024: Current Opinion in Clinical Nutrition and Metabolic Care
https://read.qxmd.com/read/38712854/patients-with-more-complex-ankle-fractures-are-associated-with-poorer-patient-reported-outcome-an-observational-study-of-11-733-patients-from-the-swedish-fracture-register
#25
JOURNAL ARTICLE
Caroline Stigevall, Michael Möller, David Wennergren, Olof Wolf, Jan Ekelund, Carl Bergdahl
BACKGROUND AND PURPOSE: Patient-reported outcome measures (PROMs) following ankle fractures, including all fracture types, have not been reported. It is therefore unclear whether fracture morphology correlates with outcome. We aimed to analyze PROMs in patients with an ankle fracture in relation to the Arbeitsgemeinschaft für Osteosynthesefragen/Orthopaedic Trauma Association (AO/OTA) fracture classification using population-based register data from the Swedish Fracture Register (SFR)...
May 7, 2024: Acta Orthopaedica
https://read.qxmd.com/read/38712813/comprehensive-understanding-of-glioblastoma-molecular-phenotypes-classification-characteristics-and-transition
#26
REVIEW
Can Xu, Pengyu Hou, Xiang Li, Menglin Xiao, Ziqi Zhang, Ziru Li, Jianglong Xu, Guoming Liu, Yanli Tan, Chuan Fang
Among central nervous system-associated malignancies, glioblastoma (GBM) is the most common and has the highest mortality rate. The high heterogeneity of GBM cell types and the complex tumor microenvironment frequently lead to tumor recurrence and sudden relapse in patients treated with temozolomide. In precision medicine, research on GBM treatment is increasingly focusing on molecular subtyping to precisely characterize the cellular and molecular heterogeneity, as well as the refractory nature of GBM toward therapy...
May 6, 2024: Cancer Biology & Medicine
https://read.qxmd.com/read/38712801/recalcitrant-dermatophyte-infections-identification-and-risk-factors
#27
JOURNAL ARTICLE
Pegah Tamimi, Mahsa Fattahi, Alireza Firooz, Aliasghar Ghaderi, Azin Ayatollahi, Mansour Nasiri Kashani, Ahmed Alkhen
INTRODUCTION: Recalcitrant dermatophytosis is an emerging phenomenon that occurs worldwide, and Trichophyton indotineae is currently the prominent cause. MATERIALS AND METHODS: Skin specimens from patients with tinea infection were obtained by scrubbing and then sectioned into three fragments. Two fragments were subjected to direct microscopic examination and culture, while the third portion was utilized in the PCR method. RESULTS: Isolates were morphologically identified as Trichophyton mentagrophytes/interdigitale complex (n = 60 [83...
May 7, 2024: International Journal of Dermatology
https://read.qxmd.com/read/38712738/hormonal-influences-on-cerebral-aneurysms-unraveling-the-complex-connections
#28
REVIEW
Zahra Hasanpour Segherlou, Mahdieh Shakeri-Darzekonani, Armin Khavandegar, Sara Stephenson, Kimberly Ciccone, Forough Masheghati, Mohammad Reza Hosseini Siyanaki, Mac Lyerly, Brandon Lucke-Wold
INTRODUCTION: Intracranial aneurysms (IAs) occur in 3-5% of the general population and are characterized by localized structural deterioration of the arterial wall with loss of internal elastic lamina and disruption of the media. The risk of incidence and rupture of aneurysms depends on age, sex, ethnicity, and other different factors, indicating the influence of genetic and environmental factors. When an aneurysm ruptures, there is an estimated 20% mortality rate, along with an added 30-40% morbidity in survivors...
May 7, 2024: Expert Review of Endocrinology & Metabolism
https://read.qxmd.com/read/38712715/frequency-of-lyme-disease-in-patients-with-tick-contact-and-identification-of-ticks-from-bolu-province-of-turkey
#29
JOURNAL ARTICLE
Nebil Arslan, Hasan Tahsin Gozdas, Kerem Yaman, Seyda Karabork
BACKGROUND OBJECTIVES: Lyme disease is a multisystemic disease caused by the bacteria in the Borrelia burgdorferi sensu lato complex, which is transmitted by ticks of Ixodes genus. Although there are seroprevalence studies and case reports of Lyme disease from various regions in Turkey, there is no widespread epidemiological research. This study aimed to determine the frequency of Lyme disease in the cases followed-up after tick contact and to examine the isolated ticks to reveal tick population from Bolu province...
May 6, 2024: Journal of Vector Borne Diseases
https://read.qxmd.com/read/38712707/blending-three-repair-techniques-in-a-case-of-complex-mitral-valve-endocarditis
#30
JOURNAL ARTICLE
Antonia Van Kampen, Thoralf M Sundt Rd, Serguei Melnitchouk
In a 39-year-old male with mitral valve endocarditis, after 6 weeks of intravenous antibiotics, echocardiography confirmed multiple vegetations on both leaflets, a flail posterior leaflet flail and contained perforation of the anterior leaflet in a windsock-like morphology. All vegetations, diseased and ruptured chords and the windsock-like contained rupture of the anterior leaflet were carefully resected via a right minithoracotomy and with femoral cannulation. Three repair techniques were blended to reconstruct the valve: (1) A large, infected portion of the prolapsing posterior leaflet was resected in a triangular fashion, and the edges were re-approximated using continuous 5-0 polypropylene sutures...
May 7, 2024: Multimedia Manual of Cardiothoracic Surgery: MMCTS
https://read.qxmd.com/read/38712699/combined-endoscopic-mucosal-resection-and-full-thickness-resection-for-large-colorectal-polyps-a-systematic-review-and-meta-analysis
#31
REVIEW
Butros Fakhoury, Iyiad Alabdul Razzak, Rebecca Morin, Sandeep Krishnan, Syed Mahmood
BACKGROUND AND AIMS: Combined endoscopic mucosal resection (EMR) with endoscopic Full thickness resection (EFTR) is an emerging technique that has been developed to target colorectal polyps larger than 2 cm. We performed a systematic review and meta-analysis to evaluate this technique for the resection of large colorectal lesions. METHODS: We conducted a comprehensive search of multiple electronic databases from inception through August 2023, to identify studies that reported on hybrid FTR...
May 7, 2024: Scandinavian Journal of Gastroenterology
https://read.qxmd.com/read/38712647/vitamin-d-analytical-advances-clinical-impact-and-ongoing-debates-on-health-perspectives
#32
JOURNAL ARTICLE
Etienne Cavalier, Konstantinos Makris, Annemieke C Heijboer, Markus Herrmann, Jean-Claude Souberbielle
BACKGROUND: Vitamin D, acknowledged since the 1930s for its role in preventing rickets, gained additional prominence in relation to fragility fracture prevention in the late 1980s. From the early 2000s, connections between vitamin D deficiency and extra-skeletal pathologies emerged, alongside increased awareness of widespread deficits. This prompted crucial debates on optimal serum concentrations, expected to conclude when the outcomes of high-dose supplementation randomized controlled trials were available...
May 7, 2024: Clinical Chemistry
https://read.qxmd.com/read/38712621/primitive-embryonic-type-neuroectodermal-glandular-complexes-in-testicular-germ-cell-tumors-a-mimic-of-embryonic-type-neuroectodermal-tumor
#33
JOURNAL ARTICLE
Rumeal D Whaley, Thomas M Ulbright
Embryonic-type neuroectodermal elements are often intimately mixed with primitive endodermal-type glands, like those of yolk sac tumors, in germ cell neoplasia in situ (GCNIS)-derived germ cell tumors of the testis. Because the primitive glands mimic tubules or rosettes of embryonic-type neuroectodermal elements, these embryonic-type neuroectodermal/glandular complexes may be misinterpreted as pure lesions of embryonic-type neuroectodermal elements, which, if of sufficient size, may lead to a diagnosis of embryonic-type neuroectodermal tumor, despite that the criteria of the World Health Organization for a "somatic-type malignancy" are not met...
May 7, 2024: American Journal of Surgical Pathology
https://read.qxmd.com/read/38712556/advances-in-the-management-of-higher-risk-myelodysplastic-syndromes-future-prospects
#34
REVIEW
Georgina Gener-Ricos, Juan Jose Rodriguez-Sevilla, Samuel Urrutia, Alex Bataller, Alexandre Bazinet, Guillermo Garcia-Manero
Higher-risk myelodysplastic syndromes (HR-MDS) are defined using a number of prognostic scoring systems that include the degree of cytopenias, percentage of blasts, cytogenetic alterations, and more recently genomic data. HR-MDS encompasses characteristics such as progressive cytopenias, increased bone marrow blasts, unfavorable cytogenetics, and an adverse mutational profile. Survival is generally poor, and patients require therapy to improve outcomes. Hypomethylating agents (HMAs), such as azacitidine, decitabine, and more recently, oral decitabine/cedazuridine, are the only approved therapies for HR-MDS...
May 7, 2024: Leukemia & Lymphoma
https://read.qxmd.com/read/38712480/identifying-optimal-candidates-for-primary-tumor-resection-among-metastatic-pancreatic-cancer-patients-a-population-based-predictive-model
#35
JOURNAL ARTICLE
Kaifeng Su, Ruifeng Duan, Yang Wu
BACKGROUND: There is a controversy about whether surgery should proceed among metastatic pancreatic cancer (mPC) patients. A survival benefit was observed in mPC patients who underwent primary tumor resection; however, determining which patients would benefit from surgery is complex. For this purpose, we created a model to identify mPC patients who may benefit from primary tumor excision. METHODS: Patients with mPC were extracted from the Surveillance, Epidemiology, and End Results database, and separated into surgery and nonsurgery groups based on whether the primary tumor was resected...
May 7, 2024: Cancer Investigation
https://read.qxmd.com/read/38712424/transforming-surgical-landscapes-obstacles-in-the-integration-of-robotic-surgery-in-pakistan-is-cost-the-only-limiting-factor
#36
REVIEW
Zeeshan Raza, Sabah Uddin Saqib, Hasnain Zafar, Saleem Islam
The advantages of Robotic Assisted Surgery (RAS) over laparoscopic surgery encompass enhanced precision, improved ergonomics, shorter learning curves, versatility in complex procedures, and the potential for remote surgery. These benefits contribute to improved patient outcomes which have led to a paradigm shift in robotic surgery worldwide and it is now being hailed as the future of surgery. Robotic surgery was introduced in Pakistan in 2011, but widespread adoption has been limited. The future of RAS in Pakistan demands a strategic and comprehensive plan due to the substantial investment in installation and maintenance costs...
April 2024: JPMA. the Journal of the Pakistan Medical Association
https://read.qxmd.com/read/38712322/dopaminergic-mesolimbic-structural-reserve-is-positively-linked-to-better-outcome-after-severe-stroke
#37
JOURNAL ARTICLE
Liv Asmussen, Benedikt M Frey, Lukas K Frontzkowski, Paweł P Wróbel, L Sophie Grigutsch, Chi-Un Choe, Marlene Bönstrup, Bastian Cheng, Götz Thomalla, Fanny Quandt, Christian Gerloff, Robert Schulz
The concept of brain reserve capacity has emerged in stroke recovery research in recent years. Imaging-based biomarkers of brain health have helped to better understand outcome variability in clinical cohorts. Still, outcome inferences are far from being satisfactory, particularly in patients with severe initial deficits. Neurorehabilitation after stroke is a complex process, comprising adaption and learning processes, which, on their part, are critically influenced by motivational and reward-related cognitive processes...
2024: Brain communications
https://read.qxmd.com/read/38712289/generation-of-a-zebrafish-neurofibromatosis-model-via-inducible-knockout-of-nf2
#38
Ayyappa Raja Desingu Rajan, Yuanyun Huang, Jan Stundl, Katelyn Chu, Anushka Irodi, Zihan Yang, Brian E Applegate, Marianne E Bronner
Neurofibromatosis Type 2 (NF-2) is a dominantly inherited genetic disorder that results from mutations in the tumor suppressor gene, neurofibromin 2 (NF2) gene. Here, we report the generation of a conditional zebrafish model of neurofibromatosis established by an inducible genetic knockout of nf2a/b , the zebrafish homolog of human NF2. Analysis of nf2a and nf2b expression reveals ubiquitous expression of nf2b in the early embryo, with overlapping expression in the neural crest and its derivatives and in the cranial mesenchyme...
April 27, 2024: bioRxiv
https://read.qxmd.com/read/38712224/using-large-language-models-to-annotate-complex-cases-of-social-determinants-of-health-in-longitudinal-clinical-records
#39
Alexandra Ralevski, Nadaa Taiyab, Michael Nossal, Lindsay Mico, Samantha N Piekos, Jennifer Hadlock
Social Determinants of Health (SDoH) are an important part of the exposome and are known to have a large impact on variation in health outcomes. In particular, housing stability is known to be intricately linked to a patient's health status, and pregnant women experiencing housing instability (HI) are known to have worse health outcomes. Most SDoH information is stored in electronic health records (EHRs) as free text (unstructured) clinical notes, which traditionally required natural language processing (NLP) for automatic identification of relevant text or keywords...
April 27, 2024: medRxiv
https://read.qxmd.com/read/38712213/comparison-of-wild-type-and-high-risk-pnpla3-variants-in-a-human-biomimetic-liver-microphysiology-system-for-metabolic-dysfunction-associated-steatotic-liver-disease-precision-therapy
#40
Mengying Xia, Mahboubeh Varmazyad, Iris Pla-Palacín, Dillon C Gavlock, Richard DeBiasio, Gregory LaRocca, Celeste Reese, Rodrigo Florentino, Lanuza A P Faccioli, Jacquelyn A Brown, Lawrence A Vernetti, Mark Schurdak, Andrew M Stern, Albert Gough, Jaideep Behari, Alejandro Soto-Gutierrez, D Lansing Taylor, Mark T Miedel
Metabolic dysfunction-associated steatotic liver disease (MASLD) is a worldwide health epidemic with a global occurrence of approximately 30%. The pathogenesis of MASLD is a complex, multisystem disorder driven by multiple factors including genetics, lifestyle, and the environment. Patient heterogeneity presents challenges for developing MASLD therapeutics, creation of patient cohorts for clinical trials and optimization of therapeutic strategies for specific patient cohorts. Implementing pre-clinical experimental models for drug development creates a significant challenge as simple in vitro systems and animal models do not fully recapitulate critical steps in the pathogenesis and the complexity of MASLD progression...
April 30, 2024: bioRxiv
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