keyword
https://read.qxmd.com/read/38496634/genome-wide-association-study-identifies-new-loci-associated-with-ocd
#21
Nora I Strom, Matthew W Halvorsen, Chao Tian, Christian Rück, Gerd Kvale, Bjarne Hansen, Jonas Bybjerg-Grauholm, Jakob Grove, Julia Boberg, Judith Becker Nissen, Thomas Damm Als, Thomas Werge, Elles de Schipper, Bengt Fundin, Christina Hultman, Kira D Höffler, Nancy Pedersen, Sven Sandin, Cynthia Bulik, Mikael Landén, Elinor Karlsson, Kristen Hagen, Kerstin Lindblad-Toh, David M Hougaard, Sandra M Meier, Stéphanie Le Hellard, Ole Mors, Anders D Børglum, Jan Haavik, David A Hinds, David Mataix-Cols, James J Crowley, Manuel Mattheisen
To date, four genome-wide association studies (GWAS) of obsessive-compulsive disorder (OCD) have been published, reporting a high single-nucleotide polymorphism (SNP)-heritability of 28% but finding only one significant SNP. A sub-stantial increase in sample size will likely lead to further identification of SNPs, genes, and biological pathways mediating the susceptibility to OCD. We conducted a GWAS meta-analysis with a 2-3-fold increase in case sample size (OCD cases: N = 37,015, controls: N = 948,616) compared to the last OCD GWAS, including six previously published cohorts (OCGAS, IOCDF-GC, IOCDF-GC-trio, NORDiC-nor, NORDiC-swe, and iPSYCH) and unpublished self-report data from 23andMe Inc...
March 8, 2024: medRxiv
https://read.qxmd.com/read/38496603/targeting-linc00152-activates-camp-ca-2-ferroptosis-axis-and-overcomes-tamoxifen-resistance-in-er-breast-cancer
#22
Ozge Saatci, Rashed Alam, Kim-Tuyen Huynh-Dam, Aynur Isik, Meral Uner, Nevin Belder, Pelin Gulizar Ersan, Metin Cetin, Unal Metin Tokat, Mustafa Emre Gedik, Hilal Bal, Ozlem Sener Sahin, Yasser Riazalhosseini, Denis Thieffry, Daniel Gautheret, Besim Ogretmen, Sercan Aksoy, Aysegul Uner, Aytekin Akyol, Ozgur Sahin
Tamoxifen has been the mainstay therapy to treat early, locally advanced, and metastatic estrogen receptor-positive (ER+) breast cancer, constituting around 75% of all cases. However, emergence of resistance is common, necessitating the identification of novel therapeutic targets. Here, we demonstrated that long-noncoding RNA LINC00152 confers tamoxifen resistance via blocking tamoxifen-induced ferroptosis, an iron-mediated cell death. Mechanistically, inhibiting LINC00152 reduces the mRNA stability of phosphodiesterase 4D ( PDE4D ), leading to activation of cAMP/PKA/CREB axis and increased expression of TRPC1 Ca 2+ channel...
November 5, 2023: bioRxiv
https://read.qxmd.com/read/38496589/uterine-fibroids-and-hypertensive-disorders-in-pregnancy-a-systematic-review-and-meta-analysis
#23
Susan Nasab, Ethan K Gough, Elisabeth Nylander, Mostafa Borahay, James Segars, Valerie Baker, Xiaobin Wang, Katherine Cameron
CAPSULE: In this study the presence of uterine fibroids was significantly associated with an increased risk of development of hypertensive disorders of pregnancy even when accounting for age and BMI in meta-regression. This finding has potential implications for risk stratification and monitoring for hypertension during pregnancy in this population. OBJECTIVE: To examine the association between uterine fibroids and the development of hypertensive disorders in pregnancy...
March 7, 2024: medRxiv
https://read.qxmd.com/read/38496566/epstein-barr-virus-orchestrates-spatial-reorganization-and-immunomodulation-within-the-classic-hodgkin-lymphoma-tumor-microenvironment
#24
Yao Yu Yeo, Huaying Qiu, Yunhao Bai, Bokai Zhu, Yuzhou Chang, Jason Yeung, Hendrik A Michel, Kyle Wright, Muhammad Shaban, Sam Sadigh, Dingani Nkosi, Vignesh Shanmugam, Philip Rock, Stephanie Pei Tung Yiu, Precious Cramer, Julia Paczkowska, Pierre Stephan, Guanrui Liao, Amy Y Huang, Hongbo Wang, Han Chen, Leonie Frauenfeld, Bidisha Mitra, Benjamin E Gewurz, Christian M Schürch, Bo Zhao, Garry P Nolan, Baochun Zhang, Alex K Shalek, Michael Angelo, Faisal Mahmood, Qin Ma, W Richard Burack, Margaret A Shipp, Scott J Rodig, Sizun Jiang
Classic Hodgkin Lymphoma (cHL) is a tumor composed of rare malignant Hodgkin and Reed-Sternberg (HRS) cells nested within a T-cell rich inflammatory immune infiltrate. cHL is associated with Epstein-Barr Virus (EBV) in 25% of cases. The specific contributions of EBV to the pathogenesis of cHL remain largely unknown, in part due to technical barriers in dissecting the tumor microenvironment (TME) in high detail. Herein, we applied multiplexed ion beam imaging (MIBI) spatial pro-teomics on 6 EBV-positive and 14 EBV-negative cHL samples...
March 7, 2024: bioRxiv
https://read.qxmd.com/read/38496563/investigating-the-relationship-between-rare-genetic-variants-and-fibrosis-in-pediatric-nonalcoholic-fatty-liver-disease
#25
Julia Wattacheril, Sarah E Kleinstein, Patrick R Shea, Laura A Wilson, G Mani Subramanian, Robert P Myers, Jay Lefkowitch, Cynthia Behling, Stavra A Xanthakos, David B Goldstein
BACKGROUND AND AIMS: Nonalcoholic Fatty Liver Disease (NAFLD) is a complex human disease. Common genetic variation in the patatin-like phospholipase domain containing 3 ( PNPLA3 ) and transmembrane 6 superfamily member 2 ( TM6SF2 ) genes have been associated with an increased risk of developing NAFLD, nonalcoholic steatohepatitis (NASH), and fibrosis in adults. The role of rare genetic variants in the development and progression of NAFLD in children is not well known. We aimed to explore the role of rare genetic variants in pediatric patients with advanced fibrosis...
March 4, 2024: medRxiv
https://read.qxmd.com/read/38496497/circulating-cd4-t-cells-in-people-with-hiv-and-history-of-pulmonary-tuberculosis-have-more-intact-hiv-dna
#26
Marc Antoine Jean Juste, Yvetot Joseph, Dominique Lespinasse, Alexandra Apollon, Parmida Jamshidi, Myung Hee Lee, Maureen Ward, Esther Brill, Yanique Duffus, Uche Chukwukere, Ali Danesh, Winiffer Conce Alberto, Daniel W Fitzgerald, Jean W Pape, R Brad Jones, Kathryn Dupnik
BACKGROUND: The primary barrier to curing HIV infection is the pool of intact HIV proviruses integrated into host cell DNA throughout the bodies of people living with HIV (PLHIV), called the HIV reservoir. Reservoir size is impacted by the duration of HIV infection, delay in starting antiretroviral therapy (ART), and breakthrough viremia during ART. The leading infectious cause of death worldwide for PLHIV is TB, but we don't know how TB impacts the HIV reservoir. METHODS: We designed a case-control study to compare HIV provirus-containing CD4 in PLHIV with vs...
March 7, 2024: medRxiv
https://read.qxmd.com/read/38496346/outcome-and-complications-of-operatively-treated-subaxial-cervical-spine-injuries-a-population-based-retrospective-cohort-study
#27
JOURNAL ARTICLE
Joel Alve, Jukka Huttunen, Ville Leinonen, Henna-Kaisa Jyrkkänen, Nils Danner
OBJECTIVE: The aim was to study the outcome and complications of operative treatment for subaxial cervical spine injuries with respect to injury morphology and surgical strategy. METHODS: A population-based cohort of 271 consecutive patients treated at Kuopio University Hospital from 2003 to 2018 was retrospectively reviewed. RESULTS: The mean age was 52.4 (range 12-90) years and 78.6% were male. The AOSpine morphological classification was C in 56...
April 2024: World neurosurgery: X
https://read.qxmd.com/read/38496341/scoping-review-the-role-of-psychedelics-in-the-management-of-chronic-pain
#28
REVIEW
Christopher L Robinson, Alexandra C G Fonseca, Efemena M Diejomaoh, Ryan S D'Souza, Michael E Schatman, Vwaire Orhurhu, Trent Emerick
INTRODUCTION: Amid a lack of effective chronic pain treatments, psychedelics have gained attention as a potential solution, although their Schedule 1 classification poses challenges. Psychedelics, such as lysergic acid diethylamide (LSD) and psilocybin, have gained popularity as alternatives and adjuncts for chronic pain treatment. Studies suggest that they may modulate pain processing through agonism primarily at the serotonin receptor, 5-HT2A . One of the first of its nature, we present an artificial intelligence (AI)-powered scoping review primarily focusing on evaluating psychedelics for chronic pain conditions such as cluster headache, phantom limb pain, and fibromyalgia...
2024: Journal of Pain Research
https://read.qxmd.com/read/38496340/cost-effectiveness-of-one-health-intervention-to-reduce-risk-of-human-exposure-and-infection-with-non-typhoidal-salmonellosis-nts-in-nigeria
#29
JOURNAL ARTICLE
Abdullahi O Sanni, Annelize Jonker, Vincent Were, Olubunmi G Fasanmi, Oluwawemimo O Adebowale, Aminu Shittu, Abdurrahman H Jibril, Folorunso O Fasina
BACKGROUND: Non-typhoidal Salmonella infection (NTS) is an important foodborne zoonosis with underappreciated health and economic burdens, and low case fatality. It has global prevalence, with more burdens in under-resourced countries with poor health infrastructures. Using a cohort study, we determined the cost-effectiveness of NTS in humans in Nigeria for the year 2020. METHODS: Using a customized Excel-based cost-effectiveness analysis tool, structured (One Health) and unstructured (episodic intervention against NTS) in Nigeria were evaluated...
June 2024: One Health
https://read.qxmd.com/read/38496233/predictors-of-seizure-outcomes-in-stereo-electroencephalography-guided-radio-frequency-thermocoagulation-for-mri-negative-epilepsy
#30
JOURNAL ARTICLE
Qi Huang, Pandeng Xie, Jian Zhou, Haoran Ding, Zhao Liu, Tianfu Li, Yuguang Guan, Mengyang Wang, Jing Wang, Pengfei Teng, Mingwang Zhu, Kaiqiang Ma, Han Wu, Guoming Luan, Feng Zhai
BACKGROUND: One-third of intractable epilepsy patients have no visually identifiable focus for neurosurgery based on imaging tests [magnetic resonance imaging (MRI)-negative cases]. Stereo-electroencephalography-guided radio-frequency thermocoagulation (SEEG-guided RF-TC) is utilized in the clinical treatment of epilepsy to lower the incidence of complications post-open surgery. OBJECTIVE: This study aimed to identify prognostic factors and long-term seizure outcomes in SEEG-guided RF-TC for patients with MRI-negative epilepsy...
2024: Therapeutic Advances in Chronic Disease
https://read.qxmd.com/read/38496152/a-comparative-analysis-of-the-outcomes-of-various-graft-types-in-burn-reconstruction-over-the-past-24-years-a-systematic-review
#31
REVIEW
Kenneth Aleman Paredes, Julio C Selaya Rojas, Jose R Flores Valdés, Jaqueline L Castillo, Mauricio Montelongo Quevedo, Francisco J Mijangos Delgado, Hernán A de la Cruz Durán, Carina L Nolasco Mendoza, Edgar J Nuñez Vazquez
Burn injuries, a major global health concern, result in an estimated 180,000 fatalities annually. Despite tremendous progress in treatment methods over the years, the morbidity and mortality associated with burns remain significant. Autologous skin grafting, particularly split-thickness skin grafting (STSG), has been a cornerstone in burn reconstruction, and it has facilitated survival and functional recovery for total body surface area (TBSA) significantly. However, the requirement for primary closure at the donor site due to the constraints of full-thickness donor harvesting continues to pose challenges...
February 2024: Curēus
https://read.qxmd.com/read/38496104/impact-of-chronic-suppurative-otitis-media-on-quality-of-life-and-psychological-well-being-a-cross-sectional-study
#32
JOURNAL ARTICLE
Shaila Sidam, Anjan K Sahoo, Utkal P Mishra, Vikas Gupta, Anuradha Kushwah, Prasanta K Sahoo
BACKGROUND: Chronic suppurative otitis media (CSOM) is a prevalent and persistent middle ear condition that not only affects auditory health but also potentially influences various aspects of an individual's life. This study explores the correlation between CSOM, depression, anxiety, and stress, using the 21-item Depression, Anxiety, and Stress Scale (DASS 21), also assessing quality of life (QoL) using the Chronic Ear Survey (CES) questionnaire. The primary objective of this study was to gather prospective audiological data along with information on both disease-specific quality of life and psychological well-being, utilizing validated measurement instruments...
February 2024: Curēus
https://read.qxmd.com/read/38495807/best-practice-recommendations-for-infertility-management
#33
JOURNAL ARTICLE
Jaideep Malhotra, M Gouri Devi, Madhuri Patil
AIM: The objective of this document is to provide guidance to the infertility specialist, gynecologist, embryologist, and counselors on the management of sub-fertility and brief them with the recent advances in the field. These recommendations will aid the aforementioned healthcare professionals in everyday clinical decisions about appropriate and effective care of their patients with the best available evidence. PARTICIPANTS: Extensive deliberations, discussion, and brainstorming was done between different reproductive medicine (RM) specialists, to develop the recommendations...
February 2024: Journal of Human Reproductive Sciences
https://read.qxmd.com/read/38495792/differences-in-the-clinical-and-hormonal-presentation-of-patients-with-familial-and-sporadic-primary-aldosteronism
#34
JOURNAL ARTICLE
Marta Araujo-Castro, Paola Parra, Patricia Martín Rojas-Marcos, Miguel Paja Fano, Marga González Boillos, Eider Pascual-Corrales, Ana María García Cano, Jorge Gabriel Ruiz-Sanchez, Almudena Vicente Delgado, Emilia Gómez Hoyos, Rui Ferreira, Iñigo García Sanz, Mònica Recasens Sala, Rebeca Barahona San Millan, María José Picón César, Patricia Díaz Guardiola, Carolina M Perdomo, Laura Manjón-Miguélez, Rogelio García Centeno, Ángel Rebollo Román, Paola Gracia Gimeno, Cristina Robles Lázaro, Manuel Morales-Ruiz, María Calatayud, Simone Andree Furio Collao, Diego Meneses, Miguel Sampedro Nuñez, Verónica Escudero Quesada, Elena Mena Ribas, Alicia Sanmartín Sánchez, Cesar Gonzalvo Diaz, Cristina Lamas, María Del Castillo Tous, Joaquín Serrano Gotarredona, Theodora Michalopoulou Alevras, Eva María Moya Mateo, Felicia A Hanzu
PURPOSE: To compare the clinical and hormonal characteristics of patients with familial hyperaldosteronism (FH) and sporadic primary aldosteronism (PA). METHODS: A systematic review of the literature was performed for the identification of FH patients. The SPAIN-ALDO registry cohort of patients with no suspicion of FH was chosen as the comparator group (sporadic group). RESULTS: A total of 360 FH (246 FH type I, 73 type II, 29 type III, and 12 type IV) cases and 830 sporadic PA patients were included...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38495576/the-surgical-management-and-oncologic-outcomes-of-patients-with-fungating-soft-tissue-sarcoma-treated-at-a-tertiary-cancer-centre-and-review-of-literature
#35
REVIEW
Sudam Sadangi, Hemant Saraiya, Abhijeet Ashok Salunke, Nandlal Bharwani, Keval Patel, Shivam Pandya, Vikas Warikoo, Shashank Pandya
BACKGROUND: Currently there is limited literature available on fungating soft tissue sarcoma and its effect of outcomes. In the current study we evaluated the surgical management and oncologic outcomes of patient with fungating soft tissue sarcoma. MATERIALS AND METHODS: This was a retrospective observational study of patients with fungating sarcoma between January 2015 till January 2019 at a tertiary cancer care centre. A total of 59 patients were considered of which 16 had metastasis at presentation...
July 2024: Journal of Orthopaedics
https://read.qxmd.com/read/38495522/propofol-sedation-does-not-improve-measures-of-colonoscopy-quality-but-increase-cost-findings-from-a-large-population-based-cohort-study
#36
JOURNAL ARTICLE
Sheikh Rahman, Lauren E Cipriano, Cassandra McDonald, Sarah Cocco, Ziad Hindi, Debarati Chakraborty, Karissa French, Omar Siddiqi, Mayur Brahmania, Aze Wilson, Brian Yan, Leonardo Guizzetti, Vipul Jairath, Michael Sey
BACKGROUND: Propofol is often used for sedation during colonoscopy. We assessed the impact of propofol sedation on colonoscopy related quality metrics and cost in a population-based cohort study. METHODS: All colonoscopies performed at 21 hospitals in the province of Ontario, Canada, during an 18-month period, from April 1, 2017 to October 31, 2018, using either propofol or conscious sedation were evaluated. The primary outcome was adenoma detection rate (ADR) and secondary outcomes were sessile serrated polyp detection rate (ssPDR), polyp detection rate (PDR), cecal intubation rate (CIR), and perforation rate...
April 2024: EClinicalMedicine
https://read.qxmd.com/read/38495405/development-and-validation-of-a-prediction-model-for-hyperuricemia-risk-in-hypertensive-patients
#37
JOURNAL ARTICLE
Li-Xiang Zhang, Jiao-Yu Cao, Xiao-Juan Zhou
OBJECTIVE: This study aimed to create a predictive model for hyperuricemia (HUA) in patients diagnosed with hypertension and evaluate its predictive accuracy. METHODS: Employing a retrospective cohort design, this study investigated HUA incidence and clinical data among 228 patients with essential hypertension selected from the Department of Cardiology at a tertiary A-level hospital in Anhui Province, China, between January 2018 and June 2021. The patients were divided randomly into a training group (168 cases) and a validation group (60 cases) at a 7:3 ratio...
2024: American Journal of Cardiovascular Disease
https://read.qxmd.com/read/38495288/predicting-major-adverse-cardiovascular-events-after-orthotopic-liver-transplantation-using-a-supervised-machine-learning-model-a-cohort-study
#38
JOURNAL ARTICLE
Jonathan Soldera, Leandro Luis Corso, Matheus Machado Rech, Vinícius Remus Ballotin, Lucas Goldmann Bigarella, Fernanda Tomé, Nathalia Moraes, Rafael Sartori Balbinot, Santiago Rodriguez, Ajacio Bandeira de Mello Brandão, Bruno Hochhegger
BACKGROUND: Liver transplant (LT) patients have become older and sicker. The rate of post-LT major adverse cardiovascular events (MACE) has increased, and this in turn raises 30-d post-LT mortality. Noninvasive cardiac stress testing loses accuracy when applied to pre-LT cirrhotic patients. AIM: To assess the feasibility and accuracy of a machine learning model used to predict post-LT MACE in a regional cohort. METHODS: This retrospective cohort study involved 575 LT patients from a Southern Brazilian academic center...
February 27, 2024: World Journal of Hepatology
https://read.qxmd.com/read/38494772/-mid-term-analysis-of-prospective-cohort-study-of-rivaroxaban-in-preventing-crt-in-breast-cancer
#39
JOURNAL ARTICLE
D Sang, S M Fan, S Y Li, J T Zhang, H M Wang, X H Zhao, L J Zheng, P Liang, G B Xi, L M Zhao, Y R Zhang, P Yuan
Objective: To explore the efficacy and safety of Rivaroxaban in preventing catheter related thrombosis (CRT) in patients with breast cancer who are undergoing central venous catheter chemotherapy, and provide basis for making standardized prevention and treatment strategies. Methods: In this research, a prospective cohort study was adopted, and breast cancer patients who received central venous catheter chemotherapy in Sanhuan Cancer Hospital during September 2020 to March 2022 were selected as a treatment group to take the rivaroxaban anticoagulation therapy with 10 mg...
March 23, 2024: Zhonghua Zhong Liu za Zhi [Chinese Journal of Oncology]
https://read.qxmd.com/read/38494577/incidence-of-sodium-glucose-cotransporter-2-inhibitor-associated-perioperative-ketoacidosis-in-surgical-patients-a-prospective-cohort-study
#40
JOURNAL ARTICLE
Hiroyuki Seki, Norifumi Kuratani, Toshiya Shiga, Yudai Iwasaki, Kanae Karita, Kazuki Yasuda, Natsuko Yamamoto, Yuko Nakanishi, Kenji Shigematsu, Kensuke Kobayashi, Junichi Saito, Ichiro Kondo, Nozomu Yaida, Hidenobu Watanabe, Midoriko Higashi, Tetsuro Shirasaka, Akira Doshu-Kajiura, Mitsutaka Edanaga, Satoshi Tanaka, Saori Ikumi, Shingo Ito, Masayuki Okada, Tomoko Yorozu
PURPOSE: Sodium-glucose cotransporter 2 inhibitors (SGLT2is) are commonly prescribed anti-diabetic medications with various beneficial effects; however, they have also been associated with ketoacidosis. The aim of this study was to determine the incidence of SGLT2i-associated perioperative ketoacidosis (SAPKA) in surgical patients. METHODS: We conducted a multicenter, prospective cohort study across 16 centers in Japan, enrolling surgical patients with diabetes who were prescribed SGLT2is between January 2021 and August 2022...
March 17, 2024: Journal of Anesthesia
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