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A Lokki, Michael Triebwasser, Emma Daly, Finnpec Cohort, Mrtja Kurki, Markus Perola, Kirsi Auro, Jane Salmon, Anuja Java, Mark Daly, John Atkinson, Hannele Laivuori, Seppo Meri
Preeclampsia is a common multifactorial disease of pregnancy. Dysregulation of the complement activation is among emerging candidates responsible for disease pathogenesis. In a targeted exomic sequencing study we identified 14 variants within nine genes coding for components of the membrane attack complex (MAC, C5b-9) that are associated with preeclampsia. We found two rare missense variants in the C5 gene that predispose to preeclampsia (rs200674959: I1296V, OR (CI95) = 24.13 (1.25-467.43), p-value = 0...
April 2, 2024: Research Square
#2
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Robert Ye, Patrick Schultz, John Compitello, Riley H Grant, Jack A Kosmicki, Ben Weisburd, William Phu, Michael W Wilson, Kristen M Laricchia, Julia K Goodrich, Daniel Goldstein, Jacqueline I Goldstein, Christopher Vittal, Timothy Poterba, Samantha Baxter, Nicholas A Watts, Matthew Solomonson, Grace Tiao, Heidi L Rehm, Benjamin M Neale, Michael E Talkowski, Daniel G MacArthur, Anne O'Donnell-Luria, Konrad J Karczewski, Predrag Radivojac, Mark J Daly, Kaitlin E Samocha
Missense variants can have a range of functional impacts depending on factors such as the specific amino acid substitution and location within the gene. To interpret their deleteriousness, studies have sought to identify regions within genes that are specifically intolerant of missense variation 1-12 . Here, we leverage the patterns of rare missense variation in 125,748 individuals in the Genome Aggregation Database (gnomAD) 13 against a null mutational model to identify transcripts that display regional differences in missense constraint...
April 13, 2024: bioRxiv
#3
JOURNAL ARTICLE
Daniel J Cunningham, Joshua E Lawrence, Murali Kovvur, Kristin E Turner, Giovanni Oppizzi, Dali Xu, Li-Qun Zhang, Daniel J Johnson, Peter Mittwede, Aresh Sepehri, Jordan Brand, Robert V O'Toole, Mark J Gage
OBJECTIVES: In far-distal extra-articular tibia fracture "extreme" nailing, debate surrounds the relative biomechanical performance of plating the fibula compared with extra distal interlocks. This study aimed to evaluate several constructs for extreme nailing including one interlock (one medial-lateral interlock), one interlock + plate (one medial-lateral interlock with lateral fibula compression plating), and two interlocks (one medial-lateral interlock and one anterior-posterior interlock)...
April 4, 2024: Injury
#4
JOURNAL ARTICLE
Nithya Kadiyala, Malgorzata E Wilinska, Aideen B Daly, Munachiso Nwokolo, Rama Lakshman, Sara Hartnell, Julia Ware, Janet M Allen, Alina Cezar, Mark L Evans, Roman Hovorka, Charlotte K Boughton
BACKGROUND: CamAPS HX fully closed-loop (FCL) system, with no user input required at mealtimes, has been shown to be safe and effective in adults with type 1 and type 2 diabetes. We assessed whether time spent in hypoglycemia and hyperglycemia during FCL insulin delivery in adults varied by type of diabetes over the 24-hour period. METHODS: We retrospectively analyzed eight weeks of data from 52 participants (adults with type 1 diabetes and adults with insulin-treated type 2 diabetes) recruited to two single-center randomized controlled studies using FCL insulin delivery during unrestricted-living conditions...
April 13, 2024: Journal of Diabetes Science and Technology
#5
JOURNAL ARTICLE
Bobby Daly, Otis W Brawley, Mary K Gospodarowicz, Olufunmilayo I Olopade, Lola Fashoyin-Aje, Victoria Wolodzko Smart, I-Fen Chang, Craig L Tendler, Geoffrey Kim, Charles S Fuchs, Muhammad Shaalan Beg, Lianshan Zhang, Jeffrey J Legos, Cristina Ortega Duran, Chitkala Kalidas, Jing Qian, Justin Finnegan, Piotr Pilarski, Harriet Keane, Johanna Shen, Amy Silverstein, Yi-Long Wu, Richard Pazdur, Bob T Li
IMPORTANCE: Less than 5% of patients with cancer enroll in a clinical trial, partly due to financial and logistic burdens, especially among underserved populations. The COVID-19 pandemic marked a substantial shift in the adoption of decentralized trial operations by pharmaceutical companies. OBJECTIVE: To assess the current global state of adoption of decentralized trial technologies, understand factors that may be driving or preventing adoption, and highlight aspirations and direction for industry to enable more patient-centric trials...
April 1, 2024: JAMA Network Open
#6
JOURNAL ARTICLE
Pojsakorn Danpanichkul, Majd B Aboona, Banthoon Sukphutanan, Siwanart Kongarin, Kwanjit Duangsonk, Cheng Han Ng, Mark D Muthiah, Daniel Q Huang, Yuya Seko, Luis Antonio Díaz, Juan Pablo Arab, Ju Dong Yang, Vincent L Chen, Donghee Kim, Mazen Noureddin, Suthat Liangpunsakul, Karn Wijarnpreecha
OBJECTIVE: The worldwide burden of cancer is increasing in younger populations. However, the epidemiology of primary liver cancer remains understudied in young adults compared to other cancer forms. METHODS: This study analyzed data from the Global Burden of Disease (GBD) study between 2010 and 2019 to assess the age-standardized incidence, mortality, and disability-adjusted life years (DALYs) associated with primary liver cancer in the young (15-49 y), stratified by region, nation, sociodemographic index, and sex...
April 8, 2024: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#7
JOURNAL ARTICLE
April M Davis, Renée Rawson, Gail Pahn, James Daly, Denese C Marks
BACKGROUND AND OBJECTIVES: Antibodies to human leucocyte antigen (HLA) Class-I antigens can lead to refractoriness to platelet transfusion. Although this can be overcome by transfusion of HLA-compatible platelets, they are not always available. Disruption of HLA antigens on platelets by acid treatment may be a suitable alternative when no other components are available. The aim of this study was to assess the effect of HLA disruption and subsequent storage of platelet components. MATERIALS AND METHODS: Platelet components were treated with 0...
April 10, 2024: Vox Sanguinis
#8
JOURNAL ARTICLE
Ping Zhang, Peter Fleming, Christopher E Andoniou, Olivia G Waltner, Shruti S Bhise, Jose Paulo Martins, Benjamin A McEnroe, Valentina Voigt, Sheridan Daly, Rachel D Kuns, Adaeze P Ekwe, Andrea S Henden, Alda Saldan, Stuart Olver, Antiopi Varelias, Corey Smith, Christine R Schmidt, Kathleen S Ensbey, Samuel Rw Legg, Tomoko Sekiguchi, Simone A Minnie, Mark Gradwell, Irma Wagenaar, Andrew D Clouston, Motoko Koyama, Scott N Furlan, Glen A Kennedy, E Sally Ward, Mariapia A Degli-Esposti, Geoffrey R Hill, Siok-Keen Tey
Endothelial function and integrity are compromised after allogeneic bone marrow transplantation (BMT), but how this affects immune responses broadly remains unknown. Using a preclinical model of CMV reactivation after BMT, we found compromised antiviral humoral responses induced by IL-6 signaling. IL-6 signaling in T cells maintained Th1 cells, resulting in sustained IFN-γ secretion, which promoted endothelial cell (EC) injury, loss of the neonatal Fc receptor (FcRn) responsible for IgG recycling, and rapid IgG loss...
April 1, 2024: Journal of Clinical Investigation
#9
JOURNAL ARTICLE
Anders Kämpe, Jaana Suvisaari, Markku Lähteenvuo, Tarjinder Singh, Ari Ahola-Olli, Lea Urpa, Willehard Haaki, Jarmo Hietala, Erkki Isometsä, Tuomas Jukuri, Olli Kampman, Tuula Kieseppä, Kaisla Lahdensuo, Jouko Lönnqvist, Teemu Männynsalo, Tiina Paunio, Jussi Niemi-Pynttäri, Kimmo Suokas, Annamari Tuulio-Henriksson, Juha Veijola, Asko Wegelius, Mark Daly, Jacob Taylor, Kenneth S Kendler, Aarno Palotie, Olli Pietiläinen
Genetic factors contribute to the susceptibility of psychotic disorders, but less is known how they affect psychotic disease-course development. Utilizing polygenic scores (PGSs) in combination with longitudinal healthcare data with decades of follow-up we investigated the contributing genetics to psychotic disease-course severity and diagnostic shifts in the SUPER-Finland study, encompassing 10 403 genotyped individuals with a psychotic disorder. To longitudinally track the study participants' past disease-course severity, we created a psychiatric hospitalization burden metric using the full-coverage and nation-wide Finnish in-hospital registry (data from 1969 and onwards)...
April 1, 2024: Molecular Psychiatry
#10
JOURNAL ARTICLE
Pojsakorn Danpanichkul, Cheng Han Ng, Mark D Muthiah, Kwanjit Duangsonk, Siwanart Kongarin, Karan Srisurapanont, Phakkamon Pingwang, Nonlawan Songmueang, Chalida Nonthasoot, Worapaka Manosroi, Surakit Nathisuwan, Fang Li, Ju Dong Yang, Vincent L Chen, Donghee Kim, Mazen Noureddin, Daniel Q Huang, Karn Wijarnpreecha
OBJECTIVE: To quantify the burden of metabolic dysfunction-associated steatotic liver disease (MASLD) and related metabolic disorders in premenopausal women. PATIENTS AND METHODS: Between 2010 and 2019, global evaluations of prevalence, mortality, disability-adjusted life years (DALYs), and their age-standardized rate (ASR) were conducted for metabolic conditions such as MASLD, type 2 diabetes mellitus, dyslipidemia, hypertension (HTN), obesity, and polycystic ovarian syndrome...
March 28, 2024: Mayo Clinic Proceedings
#11
JOURNAL ARTICLE
Caoimhin Mac Giolla Phadraig, Olive Healy, Aisyah Ahmad Fisal, Carilynne Yarascavitch, Maria van Harten, June Nunn, Tim Newton, Peter Sturmey, Koula Asimakopoulou, Blánaid Daly, Marie Therese Hosey, Pedro Vitali Kammer, Alison Dougall, Andrew Geddis-Regan, Archana Pradhan, Arlette Suzy Setiawan, Bryan Kerr, Clive S Friedman, Bryant W Cornelius, Christopher Stirling, Siti Zaleha Hamzah, Derek Decloux, Gustavo Molina, Gunilla Klingberg, Hani Ayup, Heather Buchanan, Helena Anjou, Isabel Maura, Ilidia Reyes Bernal Fernandez, Jacobo Limeres Posse, Jennifer Hare, Jessica Francis, Johanna Norderyd, Maryani Mohamed Rohani, Neeta Prabhu, Paul F Ashley, Paula Faria Marques, Shalini Chopra, Sharat Chandra Pani, Susanne Krämer
OBJECTIVES: Dental behaviour support (DBS) describes all specific techniques practiced to support patients in their experience of professional oral healthcare. DBS is roughly synonymous with behaviour management, which is an outdated concept. There is no agreed terminology to specify the techniques used to support patients who receive dental care. This lack of specificity may lead to imprecision in describing, understanding, teaching, evaluating and implementing behaviour support techniques in dentistry...
March 22, 2024: Community Dentistry and Oral Epidemiology
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JOURNAL ARTICLE
Pojsakorn Danpanichkul, Kanokphong Suparan, Cheng Han Ng, Disatorn Dejvajara, Siwanart Kongarin, Nuttada Panpradist, Nathorn Chaiyakunapruk, Mark D Muthiah, Vincent L Chen, Daniel Q Huang, Luis Antonio Díaz, Mazen Noureddin, Juan Pablo Arab, Karn Wijarnpreecha
BACKGROUND & AIMS: Alcohol-associated liver diseases (ALDs) and alcohol use disorder (AUD) pose a global health risk. AUD is underrecognized in the elderly, and the burden of AUD complications, including ALD, may increase with aging populations and rising alcohol intake. However, there is a lack of epidemiological evidence on AUD and ALD in the elderly. METHODS: Using the Global Burden of Disease Study 2019, we analyzed the prevalence, mortality, disability-adjusted life years (DALYs), age-standardized rates (ASRs), and temporal change from 2000 to 2019 of ALD and AUD in the overall population and the elderly (65-89 years)...
April 2024: JHEP reports: innovation in hepatology
#13
JOURNAL ARTICLE
Emmanuel Martin, Sarah Winter, Cécile Garcin, Kay Tanita, Akihiro Hoshino, Christelle Lenoir, Benjamin Fournier, Mélanie Migaud, David Boutboul, Mathieu Simonin, Alicia Fernandes, Paul Bastard, Tom Le Voyer, Anne-Laure Roupie, Yassine Ben Ahmed, Marianne Leruez-Ville, Marianne Burgard, Geetha Rao, Cindy S Ma, Cécile Masson, Claire Soudais, Capucine Picard, Jacinta Bustamante, Stuart G Tangye, Nathalie Cheikh, Mikko Seppänen, Anne Puel, Mark Daly, Jean-Laurent Casanova, Bénédicte Neven, Alain Fischer, Sylvain Latour
Epstein-Barr virus (EBV) infection can engender severe B cell lymphoproliferative diseases1,2 . The primary infection is often asymptomatic or causes infectious mononucleosis (IM), a self-limiting lymphoproliferative disorder3 . Selective vulnerability to EBV has been reported in association with inherited mutations impairing T cell immunity to EBV4 . Here we report biallelic loss-of-function variants in IL27RA that underlie an acute and severe primary EBV infection with a nevertheless favourable outcome requiring a minimal treatment...
March 20, 2024: Nature
#14
JOURNAL ARTICLE
Satu Strausz, Erik Abner, Grace Blacker, Sarah Galloway, Paige Hansen, Qingying Feng, Brandon T Lee, Samuel E Jones, Hele Haapaniemi, Sten Raak, George Ronald Nahass, Erin Sanders, Pilleriin Soodla, Urmo Võsa, Tõnu Esko, Nasa Sinnott-Armstrong, Irving L Weissman, Mark Daly, Tuomas Aivelo, Michal Caspi Tal, Hanna M Ollila
Lyme disease is a tick-borne disease caused by bacteria of the genus Borrelia. The host factors that modulate susceptibility for Lyme disease have remained mostly unknown. Using epidemiological and genetic data from FinnGen and Estonian Biobank, we identify two previously known variants and an unknown common missense variant at the gene encoding for Secretoglobin family 1D member 2 (SCGB1D2) protein that increases the susceptibility for Lyme disease. Using live Borrelia burgdorferi (Bb) we find that recombinant reference SCGB1D2 protein inhibits the growth of Bb in vitro more efficiently than the recombinant protein with SCGB1D2 P53L deleterious missense variant...
March 19, 2024: Nature Communications
#15
JOURNAL ARTICLE
Kai-Uwe Lewandrowski, Roberto Carlos Lyra da Silva, John C Elfar, Abduljabbar Alhammoud, Isam Sami Moghamis, Bendenikt W Burkhardt, Joachim M Oertel, Stefan Landgraeber, Rossano Kepler Alvim Fiorelli, Paulo Sérgio Teixeira de Carvalho, Ivo Abraham, Jorge Felipe Ramírez León, Ernesto Martinez, Morgan P Lorio
PURPOSE: Bone and joint infections, complicated by the burgeoning challenge of antimicrobial resistance (AMR), pose significant public health threats by amplifying the disease burden globally. We leveraged results from the 2019 Global Burden of Disease Study (GBD) to explore the impact of AMR attributed to bone and joint infections in terms of disability-adjusted life years (DALYs), elucidating the contemporary status and temporal trends. METHODS: Utilizing GBD 2019 data, we summarized the burden of bone and joint infections attributed to AMR across 195 countries and territories in the 30 years from 1990 to 2019...
March 19, 2024: International Orthopaedics
#16
JOURNAL ARTICLE
Justine Ryu, Joel T Rämö, Sean Joseph Jurgens, Teemu Niiranen, Simone Sanna-Cherchi, Kenneth A Bauer, Amelia Haj, Seung Hoan Choi, Aarno Palotie, Mark Daly, Patrick T Ellinor, Pavan K Bendapudi
The Factor V Leiden (FVL, rs6025) and prothrombin G20210A (PTGM, rs1799963) polymorphisms are two of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly understood, with prior studies in marked disagreement about the thrombosis risk conferred by the DH genotype. Utilizing multi-dimensional data from the UK Biobank (UKB) and the FinnGen biorepositories, we evaluated the clinical impact of DH carrier status across 937,939 individuals...
March 18, 2024: Blood
#17
Daniel R Barnes, Jonathan P Tyrer, Joe Dennis, Goska Leslie, Manjeet K Bolla, Michael Lush, Amber M Aeilts, Kristiina Aittomäki, Nadine Andrieu, Irene L Andrulis, Hoda Anton-Culver, Adalgeir Arason, Banu K Arun, Judith Balmaña, Elisa V Bandera, Rosa B Barkardottir, Lieke P V Berger, Amy Berrington de Gonzalez, Pascaline Berthet, Katarzyna Białkowska, Line Bjørge, Amie M Blanco, Marinus J Blok, Kristie A Bobolis, Natalia V Bogdanova, James D Brenton, Henriett Butz, Saundra S Buys, Maria A Caligo, Ian Campbell, Carmen Castillo, Kathleen B M Claes, Sarah V Colonna, Linda S Cook, Mary B Daly, Agnieszka Dansonka-Mieszkowska, Miguel de la Hoya, Anna deFazio, Allison DePersia, Yuan Chun Ding, Susan M Domchek, Thilo Dörk, Zakaria Einbeigi, Christoph Engel, D Gareth Evans, Lenka Foretova, Renée T Fortner, Florentia Fostira, Maria Cristina Foti, Eitan Friedman, Megan N Frone, Patricia A Ganz, Aleksandra Gentry-Maharaj, Gord Glendon, Andrew K Godwin, Anna González-Neira, Mark H Greene, Jacek Gronwald, Aliana Guerrieri-Gonzaga, Ute Hamann, Thomas V O Hansen, Holly R Harris, Jan Hauke, Florian Heitz, Frans B L Hogervorst, Maartje J Hooning, John L Hopper, Chad D Huff, David G Huntsman, Evgeny N Imyanitov, Louise Izatt, Anna Jakubowska, Paul A James, Ramunas Janavicius, Esther M John, Siddhartha Kar, Beth Y Karlan, Catherine J Kennedy, Lambertus A L M Kiemeney, Irene Konstantopoulou, Jolanta Kupryjanczyk, Yael Laitman, Ofer Lavie, Kate Lawrenson, Jenny Lester, Fabienne Lesueur, Carlos Lopez-Pleguezuelos, Phuong L Mai, Siranoush Manoukian, Taymaa May, Iain A McNeish, Usha Menon, Roger L Milne, Francesmary Modugno, Jennifer M Mongiovi, Marco Montagna, Kirsten B Moysich, Susan L Neuhausen, Finn C Nielsen, Catherine Noguès, Edit Oláh, Olufunmilayo I Olopade, Ana Osorio, Laura Papi, Harsh Pathak, Celeste L Pearce, Inge S Pedersen, Ana Peixoto, Tanja Pejovic, Pei-Chen Peng, Beth N Peshkin, Paolo Peterlongo, C Bethan Powell, Darya Prokofyeva, Miquel Angel Pujana, Paolo Radice, Muhammad U Rashid, Gad Rennert, George Richenberg, Dale P Sandler, Naoko Sasamoto, Veronica W Setiawan, Priyanka Sharma, Weiva Sieh, Christian F Singer, Katie Snape, Anna P Sokolenko, Penny Soucy, Melissa C Southey, Dominique Stoppa-Lyonnet, Rebecca Sutphen, Christian Sutter, Manuel R Teixeira, Kathryn L Terry, Liv Cecilie V Thomsen, Marc Tischkowitz, Amanda E Toland, Toon Van Gorp, Ana Vega, Digna R Velez Edwards, Penelope M Webb, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Stacey J Winham, Anna H Wu, Siddhartha Yadav, Yao Yu, Argyrios Ziogas, Andrew Berchuck, Fergus J Couch, Ellen L Goode, Marc T Goodman, Alvaro N Monteiro, Kenneth Offit, Susan J Ramus, Harvey A Risch, Joellen M Schildkraut, Mads Thomassen, Jacques Simard, Douglas F Easton, Michelle R Jones, Georgia Chenevix-Trench, Simon A Gayther, Antonis C Antoniou, Paul D P Pharoah
BACKGROUND: Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We used data from the Ovarian Cancer Association Consortium (OCAC), Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA), UK Biobank (UKBB), and FinnGen to identify novel HGSOC susceptibility loci and develop polygenic scores (PGS). METHODS: We analyzed >22 million variants for 398,238 women. Associations were assessed separately by consortium and meta-analysed...
March 4, 2024: medRxiv
#18
JOURNAL ARTICLE
A Liu, Z Zhuang, J Li, Q Wang, S Liu, H Fang, T Huang, M Zhou
OBJECTIVES: The objective of this experiment was to evaluate the spatial pattern and temporal trend of colorectal cancer (CRC) burden attributed to dietary risk factors in China from 1990 to 2019 using data from the Global Burden of Diseases, Injuries, and Risk Factors study (GBD) 2019. METHODS: Numbers and age-standardised rates of deaths, disability-adjusted life years (DALYs) and corresponding average annual percentage change (AAPC) were determined. The joinpoint regression analysis was used to assess the temporal trends of CRC deaths and DALYs from 1990 to 2019...
March 13, 2024: Public Health
#19
JOURNAL ARTICLE
Xinyue Yang, Jiayi Sun, Wenjuan Zhang
BACKGROUND: To promote a comprehensive understanding of global trends and burden of type 2 diabetes attributable to physical inactivity. METHODS: We utilized data regarding mortality, disability-adjusted life years (DALYs), as well as age-standardized mortality rates (ASMR) and DALYs rates (ASDR) derived from the global burden of disease study 2019 to evaluate the impact of physical inactivity on the prevalence of type 2 diabetes in 204 countries and territories over the period from 1990 to 2019...
2024: Frontiers in Endocrinology
#20
JOURNAL ARTICLE
Lea Urpa, Mitja I Kurki, Elisa Rahikkala, Eija Hämäläinen, Veikko Salomaa, Jaana Suvisaari, Riikka Keski-Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen-Ebrahim, Heli Helander, Päivi Vieira, Johanna Uusimaa, Jukka S Moilanen, Jarmo Körkkö, Tarjinder Singh, Outi Kuismin, Olli Pietiläinen, Aarno Palotie, Mark J Daly
Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants. To investigate the genetic factors influencing mild and severe ID, we evaluated rare and common variation in the Northern Finland Intellectual Disability cohort (n = 1096 ID patients), a cohort with a high percentage of mild ID (n = 550) and from a population bottleneck enriched in rare, damaging variation...
March 11, 2024: European Journal of Human Genetics: EJHG
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