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JOURNAL ARTICLE
Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F Lauridsen, Oliver Murch, Rachel Irving, Sally A Lynch, Sarju G Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M Johannesen, Ian T Westphall, Susan S Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S Møller, Guido Rubboli, Allan Bayat
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related disorders. We recruited unpublished individuals with POU3F3 variants through international collaborations and obtained updated clinical data on previously published individuals. Trio exome sequencing or single exome sequencing followed by segregation analysis were performed in the novel cohort...
May 10, 2023: Clinical Genetics
#22
Amy Blumling, Michelle McGowan, Cynthia Prows, Kristin Childers-Buschle, Lisa Martin, John Lynch, Kevin Dufendach, Ellen Lipstein, Melinda Butsch Kovacic, Bill Brinkman, Melanie Myers
Background To protect minors' future autonomy, professional organizations have historically discouraged returning predictive adult-onset genetic test results and carrier status to children. Recent clinical guidance diverges from this norm, suggesting that when minors have genomic sequencing performed for clinical purposes, parents and children should have the opportunity to learn secondary findings, including for some adult-onset conditions. While parents can currently opt in or out of receiving their child's secondary findings, the American Society of Human Genetics Workgroup on Pediatric Genetic and Genomic Testing suggests including adolescents in the decision-making process...
April 27, 2023: Research Square
#23
JOURNAL ARTICLE
Jodie G Katon, Andrew Bossick, Cathea Carey, Alicia Christy, Kemi Doll, Elise Gatsby, Kristen E Gray, Kristine E Lynch, Ernest Moy, Shanise Owens, Donna L Washington, Lisa S Callegari
INTRODUCTION: Uterine fibroids are common, nonmalignant tumors that disproportionately impact Black patients. We aimed to examine Black and White differences in receipt of any treatment and type of first treatment in the Department of Veterans Affairs, including effect modification by severity as approximated by anemia. METHODS: We used Department of Veterans Affairs administrative data to identify 5,041 Black and 3,206 White veterans with symptomatic uterine fibroids, identified by International Classification of Diseases, 9th edition, Clinical Modification, codes, between fiscal year 2010 and fiscal year 2012 and followed in the administrative data through fiscal year 2018 for outcomes...
April 25, 2023: Women's Health Issues: Official Publication of the Jacobs Institute of Women's Health
#24
JOURNAL ARTICLE
Laura Wedd, Margaret Gleeson, Bettina Meiser, Rosie O'Shea, Kristine Barlow-Stewart, Amanda B Spurdle, Paul James, Jane Fleming, Cassandra Nichols, Rachel Austin, Elisa Cops, Melissa Monnik, Judy Do, Rajneesh Kaur
The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity, which may have significant implications for medical management. To date, few studies have examined the psychosocial impact of a reclassification in a hereditary cancer syndrome context. To address this gap, semi-structured telephone interviews were performed with eighteen individuals who had a BRCA1, BRCA2 or Lynch syndrome-related (MLH1, MSH2, MSH6 or PMS2) gene variant reclassified...
April 3, 2023: Journal of Community Genetics
#25
JOURNAL ARTICLE
Carolyn S Guan, Theresa M Boyer, Kristin C Darwin, Chelsea Henshaw, Erin D Michos, Shari Lawson, Arthur J Vaught
BACKGROUND: Postpartum hemorrhage (PPH) is a leading cause of maternal morbidity and mortality in the U.S. and disproportionately affects pregnant persons of color. OBJECTIVE: The objective of this study was to identify the demographic and obstetric characteristics of those who received different levels of antihemorrhagic intervention in the setting of severe PPH requiring blood transfusion. STUDY DESIGN: We conducted a retrospective cohort study of patients with documented PPH (estimated blood loss [EBL] of ≥1000mL) and blood product transfusion...
March 20, 2023: American journal of obstetrics & gynecology MFM
#26
JOURNAL ARTICLE
Megan T Lynch, Kristin A Maloney, Huichun Xu, James A Perry, Regeneron Genetics Center, Alan R Shuldiner, Braxton D Mitchell
BACKGROUND: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of homozygosity (ROHs) that arise when identical-by-descent (IBD) haplotypes are inherited from each parent. Population isolates with a small set of common founders have elevated autozygosity relative to outbred populations. METHODS: In this study, we examined whether degree of autozygosity was associated with variation in 96 cardiometabolic traits among 7221 Old Order Amish individuals residing in Lancaster County, PA...
March 20, 2023: BMC Genomics
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JOURNAL ARTICLE
Anna Ostropolets, Yasser Albogami, Mitchell Conover, Juan M Banda, William A Baumgartner, Clair Blacketer, Priyamvada Desai, Scott L DuVall, Stephen Fortin, James P Gilbert, Asieh Golozar, Joshua Ide, Andrew S Kanter, David M Kern, Chungsoo Kim, Lana Y H Lai, Chenyu Li, Feifan Liu, Kristine E Lynch, Evan Minty, Maria Inês Neves, Ding Quan Ng, Tontel Obene, Victor Pera, Nicole Pratt, Gowtham Rao, Nadav Rappoport, Ines Reinecke, Paola Saroufim, Azza Shoaibi, Katherine Simon, Marc A Suchard, Joel N Swerdel, Erica A Voss, James Weaver, Linying Zhang, George Hripcsak, Patrick B Ryan
OBJECTIVE: Observational studies can impact patient care but must be robust and reproducible. Nonreproducibility is primarily caused by unclear reporting of design choices and analytic procedures. This study aimed to: (1) assess how the study logic described in an observational study could be interpreted by independent researchers and (2) quantify the impact of interpretations' variability on patient characteristics. MATERIALS AND METHODS: Nine teams of highly qualified researchers reproduced a cohort from a study by Albogami et al...
February 24, 2023: Journal of the American Medical Informatics Association: JAMIA
#28
JOURNAL ARTICLE
Arna Kristin Andesdottir, Haukur Einarsson, Hildur Jonsdottir, Jon Gunnlaugur Jonasson, Einar Stefan Bjornsson, Sigurdis Haraldsdottir
No abstract text is available yet for this article.
February 15, 2023: Gastroenterology
#29
Francesco Marchetti, Renato Cardoso, Connie L Chen, George R Douglas, Joanne Elloway, Patricia A Escobar, Tod Harper, Robert H Heflich, Darren Kidd, Anthony M Lynch, Meagan B Myers, Barbara L Parsons, Jesse J Salk, Raja S Settivari, Stephanie L Smith-Roe, Kristine L Witt, Carole Yauk, Robert R Young, Shaofei Zhang, Sheroy Minocherhomji
No abstract text is available yet for this article.
March 2023: Nature Reviews. Drug Discovery
#30
JOURNAL ARTICLE
Nicholas A Livingston, Elise Gatsby, Jillian C Shipherd, Kristine E Lynch
BACKGROUND: Alcohol use is a significant concern nationally and research now highlights higher rates of alcohol attributable death (AAD) and years of potential life lost (YPLL) among lesbian, gay, and bisexual (LGB) veterans compared to non-LGB veterans. In this study, we examined specific causes of AAD and associated YPLL between LGB and non-LGB veteran men and women to highlight needed outreach, prevention, and treatment strategies. METHODS: Using data from the nationwide Veterans Health Administration electronic health record and National Death Index from 2014 to 2018, we examined the top ten ranked causes of AAD among LGB (n = 102,085) and non-LGB veteran (n = 5,300,521) men and women, as well as associated YPLL per AAD...
December 22, 2022: Addictive Behaviors
#31
JOURNAL ARTICLE
John A Lynch, Michaela J Idleburg, Melinda Butsch Kovacic, Kristin E Childers-Buschle, Kevin R Dufendach, Ellen A Lipstein, Michelle L McGowan, Melanie F Myers, Cynthia A Prows
OBJECTIVE: To describe the development, implementation, and revision of a video to provide information about genomic testing and the return of genomic research results to adolescents and parents. METHODS: Formative, community-engaged research was conducted in three stages: development, implementation, and revision. Existing research participant advisory groups were used for focus groups and convenience sampling was used for interviews. Participants included parents, young adults without children, and adolescents...
December 2022: PEC Innov
#32
JOURNAL ARTICLE
Akihiko Nishimura, Junqing Xie, Kristin Kostka, Talita Duarte-Salles, Sergio Fernández Bertolín, María Aragón, Clair Blacketer, Azza Shoaibi, Scott L DuVall, Kristine Lynch, Michael E Matheny, Thomas Falconer, Daniel R Morales, Mitchell M Conover, Seng Chan You, Nicole Pratt, James Weaver, Anthony G Sena, Martijn J Schuemie, Jenna Reps, Christian Reich, Peter R Rijnbeek, Patrick B Ryan, George Hripcsak, Daniel Prieto-Alhambra, Marc A Suchard
Purpose: Alpha-1 blockers, often used to treat benign prostatic hyperplasia (BPH), have been hypothesized to prevent COVID-19 complications by minimising cytokine storm release. The proposed treatment based on this hypothesis currently lacks support from reliable real-world evidence, however. We leverage an international network of large-scale healthcare databases to generate comprehensive evidence in a transparent and reproducible manner. Methods: In this international cohort study, we deployed electronic health records from Spain (SIDIAP) and the United States (Department of Veterans Affairs, Columbia University Irving Medical Center, IQVIA OpenClaims, Optum DOD, Optum EHR)...
2022: Frontiers in Pharmacology
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JOURNAL ARTICLE
Emily A Dolsen, Amy L Byers, Annesa Flentje, Joseph L Goulet, Guneet K Jasuja, Kristine E Lynch, Shira Maguen, Thomas C Neylan
Sleep disturbance has emerged as an independent, mechanistic, and modifiable risk factor for suicide. Sexual and gender minority (SGM) people disproportionately experience sleep disturbance and are at higher risk of death by suicide relative to cisgender and/or heterosexual individuals. The present narrative review evaluates nascent research related to sleep disturbance and suicide-related thoughts and behaviors (STBs) among SGM populations, and discusses how experiences of minority stress may explain heightened risk among SGM people...
November 2022: Neurobiology of Stress
#34
JOURNAL ARTICLE
Kristin S Lynch, Cathy Spatz Widom
BACKGROUND: Childhood maltreatment (physical abuse, sexual abuse, and/or neglect) is associated with cognitive deficits in adulthood. Little is known about how childhood maltreatment affects the trajectory of cognitive functioning during early to middle adulthood. OBJECTIVE: To explore the relationship between childhood maltreatment and change in cognitive functioning over a 10-year period in adulthood. METHODS: Utilizing a prospective cohort design, a large group of court-substantiated cases of childhood maltreatment (ages 0-11) and demographically matched controls were followed into adulthood (N = 1196)...
October 2022: Child Abuse & Neglect
#35
JOURNAL ARTICLE
Larisa H Cavallari, Emily Cicali, Kristin Wiisanen, Roger B Fillingim, Hrishikesh Chakraborty, Rachel A Myers, Kathryn V Blake, Bolanle Asiyanbola, Jordan F Baye, Wesley H Bronson, Kelsey J Cook, Erica N Elwood, Chancellor F Gray, Yan Gong, Lindsay Hines, Joseph Kannry, Natalie Kucher, Sheryl Lynch, Khoa A Nguyen, Aniwaa Owusu Obeng, Victoria M Pratt, Hernan A Prieto, Michelle Ramos, Azita Sadeghpour, Rajbir Singh, Marc Rosenman, Petr Starostik, Cameron D Thomas, Emma Tillman, Paul R Dexter, Carol R Horowitz, Lori A Orlando, Josh F Peterson, Todd C Skaar, Sara L Van Driest, Simona Volpi, Deepak Voora, Hari K Parvataneni, Julie A Johnson
Opioid prescribing for postoperative pain management is challenging because of inter-patient variability in opioid response and concern about opioid addiction. Tramadol, hydrocodone, and codeine depend on the cytochrome P450 2D6 (CYP2D6) enzyme for formation of highly potent metabolites. Individuals with reduced or absent CYP2D6 activity (i.e., intermediate metabolizers [IMs] or poor metabolizers [PMs], respectively) have lower concentrations of potent opioid metabolites and potentially inadequate pain control...
July 28, 2022: Clinical and Translational Science
#36
JOURNAL ARTICLE
Alice B S Nono Djotsa, Drew A Helmer, Catherine Park, Kristine E Lynch, Amir Sharafkhaneh, Aanand D Naik, Javad Razjouyan, Christopher I Amos
The role of smoking in the risk of SARS-CoV-2 infection is unclear. We used a retrospective cohort design to study data from veterans' Electronic Medical Record to assess the impact of smoking on the risk of SARS-CoV-2 infection. Veterans tested for the SARS-CoV-2 virus from 02/01/2020 to 02/28/2021 were classified as: Never Smokers (NS), Former Smokers (FS), and Current Smokers (CS). We report the adjusted odds ratios (aOR) for potential confounders obtained from a cascade machine learning algorithm. We found a 19...
July 4, 2022: Healthcare (Basel, Switzerland)
#37
JOURNAL ARTICLE
Kristin Scoggin, Jyotsana Gupta, Rachel Lynch, Aravindh Nagarajan, Manuchehr Aminian, Amy Peterson, L Garry Adams, Michael Kirby, David W Threadgill, Helene L Andrews-Polymenis
Understanding the molecular mechanisms underlying resistance and tolerance to pathogen infection may present the opportunity to develop novel interventions. Resistance is the absence of clinical disease with a low pathogen burden, while tolerance is minimal clinical disease with a high pathogen burden. Salmonella is a worldwide health concern. We studied 18 strains of collaborative cross mice that survive acute Salmonella Typhimurium (STm) infections. We infected these strains orally and monitored them for 3 weeks...
August 30, 2022: MBio
#38
JOURNAL ARTICLE
Elke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, Juliet E Hampstead, Alexander J M Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat-Houari, Brad Angle, Nicolas Chatron, Anne-Sophie Denommé-Pichon, Orrin Devinsky, Christèle Dubourg, Frances Elmslie, Houda Zghal Elloumi, Laurence Faivre, Sarah Fitzgerald-Butt, David Geneviève, Jacqueline A C Goos, Benjamin M Helm, Usha Kini, Amaia Lasa-Aranzasti, Gaetan Lesca, Sally A Lynch, Irene M J Mathijssen, Ruth McGowan, Kristin G Monaghan, Sylvie Odent, Rolph Pfundt, Audrey Putoux, Jeroen van Reeuwijk, Gijs W E Santen, Erina Sasaki, Arthur Sorlin, Peter J van der Spek, Alexander P A Stegmann, Sigrid M A Swagemakers, Irene Valenzuela, Eléonore Viora-Dupont, Antonio Vitobello, Stephanie M Ware, Mathys Wéber, Christian Gilissen, Karen J Low, Simon E Fisher, Lisenka E L M Vissers, Maggie M K Wong, Tjitske Kleefstra
PURPOSE: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. METHODS: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments...
July 13, 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#39
JOURNAL ARTICLE
Anurag Verma, Jessica Minnier, Emily S Wan, Jennifer E Huffman, Lina Gao, Jacob Joseph, Yuk-Lam Ho, Wen-Chih Wu, Kelly Cho, Bryan R Gorman, Nallakkandi Rajeevan, Saiju Pyarajan, Helene Garcon, James B Meigs, Yan V Sun, Peter D Reaven, John E McGeary, Ayako Suzuki, Joel Gelernter, Julie A Lynch, Jeffrey M Petersen, Seyedeh Maryam Zekavat, Pradeep Natarajan, Sharvari Dalal, Darshana N Jhala, Mehrdad Arjomandi, Elise Gatsby, Kristine E Lynch, Robert A Bonomo, Matthew Freiberg, Gita A Pathak, Jin J Zhou, Curtis J Donskey, Ravi K Madduri, Quinn S Wells, Rose D L Huang, Renato Polimanti, Kyong-Mi Chang, Katherine P Liao, Philip S Tsao, Peter W F Wilson, Adriana M Hung, Christopher J O'Donnell, John M Gaziano, Richard L Hauger, Sudha K Iyengar, Shiuh-Wen Luoh
Rationale: A common MUC5B gene polymorphism, rs35705950-T, is associated with idiopathic pulmonary fibrosis (IPF), but its role in severe acute respiratory syndrome coronavirus 2 infection and disease severity is unclear. Objectives: To assess whether rs35705950-T confers differential risk for clinical outcomes associated with coronavirus disease (COVID-19) infection among participants in the Million Veteran Program (MVP). Methods: The MUC5B rs35705950-T allele was directly genotyped among MVP participants; clinical events and comorbidities were extracted from the electronic health records...
November 15, 2022: American Journal of Respiratory and Critical Care Medicine
#40
JOURNAL ARTICLE
Anurag Verma, Jennifer E Huffman, Lina Gao, Jessica Minnier, Wen-Chih Wu, Kelly Cho, Yuk-Lam Ho, Bryan R Gorman, Saiju Pyarajan, Nallakkandi Rajeevan, Helene Garcon, Jacob Joseph, John E McGeary, Ayako Suzuki, Peter D Reaven, Emily S Wan, Julie A Lynch, Jeffrey M Petersen, James B Meigs, Matthew S Freiberg, Elise Gatsby, Kristine E Lynch, Seyedeh Maryam Zekavat, Pradeep Natarajan, Sharvari Dalal, Darshana N Jhala, Mehrdad Arjomandi, Robert A Bonomo, Trevor K Thompson, Gita A Pathak, Jin J Zhou, Curtis J Donskey, Ravi K Madduri, Quinn S Wells, Joel Gelernter, Rose D L Huang, Renato Polimanti, Kyong-Mi Chang, Katherine P Liao, Philip S Tsao, Yan V Sun, Peter W F Wilson, Christopher J O'Donnell, Adriana M Hung, J Michael Gaziano, Richard L Hauger, Sudha K Iyengar, Shiuh-Wen Luoh
IMPORTANCE: Sickle cell trait (SCT), defined as the presence of 1 hemoglobin beta sickle allele (rs334-T) and 1 normal beta allele, is prevalent in millions of people in the US, particularly in individuals of African and Hispanic ancestry. However, the association of SCT with COVID-19 is unclear. OBJECTIVE: To assess the association of SCT with the prepandemic health conditions in participants of the Million Veteran Program (MVP) and to assess the severity and sequelae of COVID-19...
August 1, 2022: JAMA Internal Medicine
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