keyword
https://read.qxmd.com/read/37480080/digital-health-and-clinical-patient-management-system-cpms-platform-utility-for-data-sharing-of-neuromuscular-patients-the-italian-euro-nmd-experience
#21
JOURNAL ARTICLE
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D'Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini
BACKGROUND: The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, the Clinical Patient Management System (CPMS) is a web-based platform that seeks to boost active collaboration within and across the network, implementing data sharing. Through CPMS, it is possible to both discuss patient cases and to make patients' data available for registries and databases in a secure way...
July 21, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37461624/multi-ancestry-genome-wide-meta-analysis-of-56-241-individuals-identifies-lrrc4c-lhx5-as1-and-nominates-ancestry-specific-loci-ptprk-grb14-and-kiaa0825-as-novel-risk-loci-for-alzheimer-s-disease-the-alzheimer-s-disease-genetics-consortium
#22
Farid Rajabli, Penelope Benchek, Giuseppe Tosto, Nicholas Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan-Ping Lee, Jacob Haut, Kara L Hamilton-Nelson, Nicholas R Wheeler, Yi Zhao, John J Farrell, Michelle A Grunin, Yuk Yee Leung, Pavel P Kuksa, Donghe Li, Eder Lucio da Fonseca, Jesse B Mez, Ellen L Palmer, Jagan Pillai, Richard M Sherva, Yeunjoo E Song, Xiaoling Zhang, Taha Iqbal, Omkar Pathak, Otto Valladares, Amanda B Kuzma, Erin Abner, Perrie M Adams, Alyssa Aguirre, Marilyn S Albert, Roger L Albin, Mariet Allen, Lisa Alvarez, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Gayle Ayres, Clinton T Baldwin, Robert C Barber, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, Bruno A Benitez, David Bennett, John Bertelson, Thomas D Bird, Deborah Blacker, Bradley F Boeve, James D Bowen, Adam Boxer, James Brewer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Laura B Cantwell, Chuanhai Cao, Christopher S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Scott Chasse, Marie-Francoise Chesselet, Nathaniel A Chin, Helena C Chui, Jaeyoon Chung, Suzanne Craft, Paul K Crane, David H Cribbs, Elizabeth A Crocco, Carlos Cruchaga, Michael L Cuccaro, Munro Cullum, Eveleen Darby, Barbara Davis, Philip L De Jager, Charles DeCarli, John DeToledo, Malcolm Dick, Dennis W Dickson, Beth A Dombroski, Rachelle S Doody, Ranjan Duara, NIlüfer Ertekin-Taner, Denis A Evans, Kelley M Faber, Thomas J Fairchild, Kenneth B Fallon, David W Fardo, Martin R Farlow, Victoria Fernandez-Hernandez, Steven Ferris, Tatiana M Foroud, Matthew P Frosch, Brian Fulton-Howard, Douglas R Galasko, Adriana Gamboa, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Alison M Goate, Thomas J Grabowski, Neill R Graff-Radford, Robert C Green, John H Growdon, Hakon Hakonarson, James Hall, Ronald L Hamilton, Oscar Harari, John Hardy, Lindy E Harrell, Elizabeth Head, Victor W Henderson, Michelle Hernandez, Timothy Hohman, Lawrence S Honig, Ryan M Huebinger, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Linda S Hynan, Laura Ibanez, Gail P Jarvik, Suman Jayadev, Lee-Way Jin, Kim Johnson, Leigh Johnson, M Ilyas Kamboh, Anna M Karydas, Mindy J Katz, John S Kauwe, Jeffrey A Kaye, C Dirk Keene, Aisha Khaleeq, Ronald Kim, Janice Knebl, Neil W Kowall, Joel H Kramer, Walter A Kukull, Frank M LaFerla, James J Lah, Eric B Larson, Alan Lerner, James B Leverenz, Allan I Levey, Andrew P Lieberman, Richard B Lipton, Mark Logue, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Douglas Mains, Flanagan E Margaret, Daniel C Marson, Eden R R Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Paul Massman, Arjun Masurkar, Wayne C McCormick, Susan M McCurry, Andrew N McDavid, Stefan McDonough, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, Edwin S Monuki, John C Morris, Shubhabrata Mukherjee, Amanda J Myers, Trung Nguyen, Sid O'Bryant, John M Olichney, Marcia Ory, Raymond Palmer, Joseph E Parisi, Henry L Paulson, Valory Pavlik, David Paydarfar, Victoria Perez, Elaine Peskind, Ronald C Petersen, Aimee Pierce, Marsha Polk, Wayne W Poon, Huntington Potter, Liming Qu, Mary Quiceno, Joseph F Quinn, Ashok Raj, Murray Raskind, Eric M Reiman, Barry Reisberg, Joan S Reisch, John M Ringman, Erik D Roberson, Monica Rodriguear, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Donald R Royall, Mark A Sager, Mary Sano, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Susan H Slifer, Scott Small, Amanda G Smith, Janet P Smith, Joshua A Sonnen, Salvatore Spina, Peter St George-Hyslop, Robert A Stern, Alan B Stevens, Stephen M Strittmatter, David Sultzer, Russell H Swerdlow, Rudolph E Tanzi, Jeffrey L Tilson, John Q Trojanowski, Juan C Troncoso, Debby W Tsuang, Vivianna M Van Deerlin, Linda J van Eldik, Jeffery M Vance, Badri N Vardarajan, Robert Vassar, Harry V Vinters, Jean-Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Patrice L Whitehead, Ellen M Wijsman, Kirk C Wilhelmsen, Benjamin Williams, Jennifer Williamson, Henrik Wilms, Thomas S Wingo, Thomas Wisniewski, Randall L Woltjer, Martin Woon, Clinton B Wright, Chuang-Kuo Wu, Steven G Younkin, Chang-En Yu, Lei Yu, Xiongwei Zhu, Brian W Kunkle, William S Bush, Li-San Wang, Lindsay A Farrer, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Gyungah R Jun, Christiane Reitz, Adam C Naj
Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in non-European ancestry groups in genome-wide association studies (GWAS). We constructed and analyzed a multi-ancestry GWAS dataset in the Alzheimer's Disease (AD) Genetics Consortium (ADGC) to test for novel shared and ancestry-specific AD susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6,728 African American, 8,899 Hispanic (HIS), and 3,232 East Asian individuals, performing within-ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis...
July 8, 2023: medRxiv
https://read.qxmd.com/read/37461167/the-natural-history-of-als-baseline-characteristics-from-a-multicenter-clinical-cohort
#23
JOURNAL ARTICLE
Alex Berger, Matteo Locatelli, Ximena Arcila-Londono, Ghazala Hayat, Nicholas Olney, James Wymer, Kelly Gwathmey, Christian Lunetta, Terry Heiman-Patterson, Senda Ajroud-Driss, Eric A Macklin, Marie-Abèle Bind, Kimberly Goslin, Tamela Stuchiner, Lauren Brown, Tracy Bazan, Tyler Regan, Ashley Adamo, Valerie Ferment, Carly Schroeder, Megan Somers, Georgios Manousakis, Kenneth Faulconer, Ervin Sinani, Julia Mirochnick, Hong Yu, Alexander V Sherman, David Walk
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a rare disease with urgent need for improved treatment. Despite the acceleration of research in recent years, there is a need to understand the full natural history of the disease. As only 40% of people living with ALS are eligible for typical clinical trials, clinical trial datasets may not generalize to the full ALS population. While biomarker and cohort studies have more generous inclusion criteria, these too may not represent the full range of phenotypes, particularly if the burden for participation is high...
July 17, 2023: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
https://read.qxmd.com/read/37363945/clinical-and-genetic-atrial-fibrillation-risk-and-discrimination-of-cardioembolic-from-noncardioembolic-stroke
#24
JOURNAL ARTICLE
Lu-Chen Weng, Shaan Khurshid, Sophia Gunn, Ludovic Trinquart, Kathryn L Lunetta, Huichun Xu, Emelia J Benjamin, Patrick T Ellinor, Christopher D Anderson, Steven A Lubitz
BACKGROUND: Stroke is a leading cause of death and disability worldwide. Atrial fibrillation (AF) is a common cause of stroke but may not be detectable at the time of stroke. We hypothesized that an AF polygenic risk score (PRS) can discriminate between cardioembolic stroke and noncardioembolic strokes. METHODS: We evaluated AF and stroke risk in 26 145 individuals of European descent from the Stroke Genetics Network case-control study. AF genetic risk was estimated using 3 recently developed PRS methods (LDpred-funct-inf, sBayesR, and PRS-CS) and 2 previously validated PRSs...
July 2023: Stroke; a Journal of Cerebral Circulation
https://read.qxmd.com/read/37349795/a-genome-wide-search-for-pleiotropy-in-more-than-100-000-harmonized-longitudinal-cognitive-domain-scores
#25
JOURNAL ARTICLE
Moonil Kang, Ting Fang Alvin Ang, Sherral A Devine, Richard Sherva, Shubhabrata Mukherjee, Emily H Trittschuh, Laura E Gibbons, Phoebe Scollard, Michael Lee, Seo-Eun Choi, Brandon Klinedinst, Connie Nakano, Logan C Dumitrescu, Alaina Durant, Timothy J Hohman, Michael L Cuccaro, Andrew J Saykin, Walter A Kukull, David A Bennett, Li-San Wang, Richard P Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard D Schellenberg, Paul K Crane, Rhoda Au, Kathryn L Lunetta, Jesse B Mez, Lindsay A Farrer
BACKGROUND: More than 75 common variant loci account for only a portion of the heritability for Alzheimer's disease (AD). A more complete understanding of the genetic basis of AD can be deduced by exploring associations with AD-related endophenotypes. METHODS: We conducted genome-wide scans for cognitive domain performance using harmonized and co-calibrated scores derived by confirmatory factor analyses for executive function, language, and memory. We analyzed 103,796 longitudinal observations from 23,066 members of community-based (FHS, ACT, and ROSMAP) and clinic-based (ADRCs and ADNI) cohorts using generalized linear mixed models including terms for SNP, age, SNP × age interaction, sex, education, and five ancestry principal components...
June 22, 2023: Molecular Neurodegeneration
https://read.qxmd.com/read/37333686/spread-of-toxoplasma-gondii-among-animals-and-humans-in-northern-italy-a-retrospective-analysis-in-a-one-health-framework
#26
JOURNAL ARTICLE
F M Dini, S Morselli, A Marangoni, R Taddei, G Maioli, G Roncarati, A Balboni, F Dondi, F Lunetta, R Galuppi
Toxoplasmosis occurs worldwide and is considered one of the most important food-borne parasitic zoonoses. The consumption of undercooked meat containing viable tissue cysts and ingestion of environmental oocyst are the most important sources of infection. The aim of this retrospective study was to evaluate the spread of Toxoplasma gondii in the province of Bologna (Emilia-Romagna region) in northern Italy, with a One Health approach, comparing seropositivity rates in different animal species and in humans over the last 19 and 4 years respectively...
September 2023: Food and waterborne parasitology
https://read.qxmd.com/read/37327376/skeletal-muscle-in-amyotrophic-lateral-sclerosis
#27
REVIEW
Jeremy M Shefner, Antonio Musaro, Shyuan T Ngo, Christian Lunetta, Frederik J Steyn, Richard Robitaille, Mamede De Carvalho, Seward Rutkove, Albert C Ludolph, Luc Dupuis
Amyotrophic lateral sclerosis (ALS), the major adult-onset motor neuron disease, has been viewed almost exclusively as a disease of upper and lower motor neurons, with muscle changes interpreted as a consequence of the progressive loss of motor neurons and neuromuscular junctions. This has led to the prevailing view that the involvement of muscle in ALS is only secondary to motor neuron loss. Skeletal muscle and motor neurons reciprocally influence their respective development and constitute a single functional unit...
November 2, 2023: Brain
https://read.qxmd.com/read/37308906/influence-of-alcohol-consumption-and-alcohol-metabolism-variants-on-breast-cancer-risk-among-black-women-results-from-the-amber-consortium
#28
JOURNAL ARTICLE
Kristin L Young, Andrew F Olshan, Kathryn Lunetta, Mariaelisa Graff, Lindsay A Williams, Song Yao, Gary R Zirpoli, Melissa Troester, Julie R Palmer
BACKGROUND: Moderate to heavy alcohol consumption is associated with an increased risk of breast cancer. The etiologic role of genetic variation in genes involved in ethanol metabolism has not been established, with little information available among women of African ancestry. METHODS: Our analysis from the African American Breast Cancer Epidemiology and Risk (AMBER) Consortium included 2889 U.S. Black women who were current drinkers at the time of breast cancer diagnosis (N cases = 715) and had available genetic data for four ethanol metabolism genomic regions (ADH, ALDH, CYP2E1, and ALDH2)...
June 12, 2023: Breast Cancer Research: BCR
https://read.qxmd.com/read/37295315/ethylene-glycol-poisoning-may-be-associated-with-elevated-post-mortem-vitreous-glucose-level
#29
JOURNAL ARTICLE
Pirkko Kriikku, Ilkka Ojanperä, Philippe Lunetta
Ethylene glycol (EG) is a toxic chemical that is sometimes used as ethanol substitute. Besides the desired intoxicating effects, the intake of EG may often lead to death unless timely treatment measures are provided by medical professionals. We examined 17 fatal EG poisonings between 2016 and March 2022 in Finland in terms of forensic toxicology and biochemistry results and demographic information. Most of the deceased were male and the median (range) age was 47 (20-77) years. Of the cases, 6 were suicides, 5 accidents and in 7 cases the intent remained undetermined...
June 5, 2023: Legal Medicine
https://read.qxmd.com/read/37260021/novel-loci-for-alzheimer-s-disease-identified-by-a-genome-wide-association-study-in-ashkenazi-jews
#30
JOURNAL ARTICLE
Donghe Li, John J Farrell, Jesse Mez, Eden R Martin, William S Bush, Agustin Ruiz, Mercè Boada, Itziar de Rojas, Richard Mayeux, Jonathan L Haines, Margaret A Pericak Vance, Li-San Wang, Gerard D Schellenberg, Kathryn L Lunetta, Lindsay A Farrer
INTRODUCTION: Most Alzheimer's disease (AD) loci have been discovered in individuals with European ancestry (EA). METHODS: We applied principal component analysis using Gaussian mixture models and an Ashkenazi Jewish (AJ) reference genome-wide association study (GWAS) data set to identify Ashkenazi Jews ascertained in GWAS (n = 42,682), whole genome sequencing (WGS, n = 16,815), and whole exome sequencing (WES, n = 20,504) data sets...
June 1, 2023: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/37209192/mtor-pathway-candidate-genes-and-energy-intake-interaction-on-breast-cancer-risk-in-black-women-from-the-women-s-circle-of-health-study
#31
JOURNAL ARTICLE
Mmadili N Ilozumba, Lusine Yaghjyan, Susmita Datta, Jinying Zhao, Chi-Chen Hong, Kathryn L Lunetta, Gary Zirpoli, Elisa V Bandera, Julie R Palmer, Song Yao, Christine B Ambrosone, Ting-Yuan David Cheng
BACKGROUND: Excessive energy intake has been shown to affect the mammalian target of the rapamycin (mTOR) signaling pathway and breast cancer risk. It is not well understood whether there are gene-environment interactions between mTOR pathway genes and energy intake in relation to breast cancer risk. METHODS: The study included 1642 Black women (809 incident breast cancer cases and 833 controls) from the Women's Circle of Health Study (WCHS). We examined interactions between 43 candidate single-nucleotide polymorphisms (SNPs) in 20 mTOR pathway genes and quartiles of energy intake in relation to breast cancer risk overall and by ER- defined subtypes using Wald test with a 2-way interaction term...
May 20, 2023: European Journal of Nutrition
https://read.qxmd.com/read/37196182/a-novel-principal-component-based-method-for-identifying-differentially-methylated-regions-in-illumina-infinium-methylationepic-beadchip-data
#32
JOURNAL ARTICLE
Yuanchao Zheng, Kathryn L Lunetta, Chunyu Liu, Alicia K Smith, Richard Sherva, Mark W Miller, Mark W Logue
Differentially methylated regions (DMRs) are genomic regions with methylation patterns across multiple CpG sites that are associated with a phenotype. In this study, we proposed a Principal Component (PC) based DMR analysis method for use with data generated using the Illumina Infinium MethylationEPIC BeadChip (EPIC) array. We obtained methylation residuals by regressing the M-values of CpGs within a region on covariates, extracted PCs of the residuals, and then combined association information across PCs to obtain regional significance...
December 2023: Epigenetics: Official Journal of the DNA Methylation Society
https://read.qxmd.com/read/37147520/equating-norms-between-the-als-cognitive-behavioral-screen-als-cbs%C3%A2-and-the-edinburgh-cognitive-and-behavioural-als-screen-ecas-in-non-demented-als-patients
#33
JOURNAL ARTICLE
Edoardo Nicolò Aiello, Federica Solca, Lucia Catherine Greco, Silvia Torre, Laura Carelli, Claudia Morelli, Alberto Doretti, Eleonora Colombo, Stefano Messina, Debora Pain, Alice Radici, Andrea Lizio, Jacopo Casiraghi, Federica Cerri, Susan Woolley, Jennifer Murphy, Lucio Tremolizzo, Ildebrando Appollonio, Federico Verde, Valeria Ada Sansone, Christian Lunetta, Vincenzo Silani, Nicola Ticozzi, Barbara Poletti
BACKGROUND: The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on the ALS Cognitive Behavioral Screen (ALS-CBS™) in an Italian cohort of non-demented ALS patients. METHODS: ALS-CBS™ and ECAS scores of 293 ALS patients without frontotemporal dementia were retrospectively retrieved. Concurrent validity of the ALS-CBS™ towards the ECAS was tested by covarying for demographics, disease duration and severity, presence of C9orf72 hexanucleotide repeat expansion and behavioural features...
May 5, 2023: Journal of Neurology
https://read.qxmd.com/read/37116193/circulating-immune-cell-phenotypes-are-associated-with-age-sex-cmv-and-smoking-status-in-the-framingham-heart-study-offspring-participants
#34
JOURNAL ARTICLE
Yuan Fang, Margaret F Doyle, Jiachen Chen, Jesse Mez, Claudia L Satizabal, Michael L Alosco, Wei Qiao Qiu, Kathryn L Lunetta, Joanne M Murabito
Understanding the composition of circulating immune cells with aging and the underlying biologic mechanisms driving aging may provide molecular targets to slow the aging process and reduce age-related disease. Utilizing cryopreserved cells from 996 Framingham Heart Study (FHS) Offspring Cohort participants aged 40 and older (mean 62 years, 48% female), we report on 116 immune cell phenotypes including monocytes, T-, B-, and NK cells and their subtypes, across age groups, sex, cytomegalovirus (CMV) exposure groups, smoking and other cardiovascular risk factors...
April 27, 2023: Aging
https://read.qxmd.com/read/36979682/the-hfe-p-h63d-p-his63asp-polymorphism-is-a-modifier-of-als-outcome-in-italian-and-french-patients-with-sod1-mutations
#35
JOURNAL ARTICLE
Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D'Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chiò, On Behalf Of Italsgen Consortium
Background : Data from published studies about the effect of HFE polymorphisms on ALS risk, phenotype, and survival are still inconclusive. We aimed at evaluating whether the p.H63D polymorphism is a modifier of phenotype and survival in SOD1 -mutated patients. Methods : We included 183 SOD1 -mutated ALS patients. Mutations were classified as severe or mild according to the median survival of the study population. Patients were screened for the HFE p.H63D polymorphism. Survival was calculated using the Kaplan-Meier modeling, and differences were measured by the log-rank test...
February 24, 2023: Biomedicines
https://read.qxmd.com/read/36959364/adjusting-for-common-variant-polygenic-scores-improves-yield-in-rare-variant-association-analyses
#36
JOURNAL ARTICLE
Sean J Jurgens, James P Pirruccello, Seung Hoan Choi, Valerie N Morrill, Mark Chaffin, Steven A Lubitz, Kathryn L Lunetta, Patrick T Ellinor
With the emergence of large-scale sequencing data, methods for improving power in rare variant association tests are needed. Here we show that adjusting for common variant polygenic scores improves yield in gene-based rare variant association tests across 65 quantitative traits in the UK Biobank (up to 20% increase at α = 2.6 × 10-6 ), without marked increases in false-positive rates or genomic inflation. Benefits were seen for various models, with the largest improvements seen for efficient sparse mixed-effects models...
April 2023: Nature Genetics
https://read.qxmd.com/read/36882608/mtor-pathway-candidate-genes-and-physical-activity-interaction-on-breast-cancer-risk-in-black-women-from-the-women-s-circle-of-health-study
#37
JOURNAL ARTICLE
Mmadili N Ilozumba, Lusine Yaghjyan, Susmita Datta, Jinying Zhao, Zhihong Gong, Chi-Chen Hong, Kathryn L Lunetta, Gary Zirpoli, Elisa V Bandera, Julie R Palmer, Song Yao, Christine B Ambrosone, Ting-Yuan David Cheng
BACKGROUND: Physical activity has been shown to affect the mammalian target of rapamycin (mTOR) signaling pathway and consequently breast carcinogenesis. Given that Black women in the USA are less physically active, it is not well understood whether there are gene-environment interactions between mTOR pathway genes and physical activity in relation to breast cancer risk in Black women. METHODS: The study included 1398 Black women (567 incident breast cancer cases and 831 controls) from the Women's Circle of Health Study (WCHS)...
March 8, 2023: Breast Cancer Research and Treatment
https://read.qxmd.com/read/36790512/mtor-pathway-candidate-genes-and-obesity-interaction-on-breast-cancer-risk-in-black-women-from-the-women-s-circle-of-health-study
#38
JOURNAL ARTICLE
Mmadili N Ilozumba, Lusine Yaghjyan, Susmita Datta, Jinying Zhao, Chi-Chen Hong, Kathryn L Lunetta, Gary Zirpoli, Elisa V Bandera, Julie R Palmer, Song Yao, Christine B Ambrosone, Ting-Yuan David Cheng
BACKGROUND: Obesity is known to stimulate the mammalian target of rapamycin (mTOR) signaling pathway and both obesity and the mTOR signaling pathway are implicated in breast carcinogenesis. We investigated potential gene-environment interactions between mTOR pathway genes and obesity in relation to breast cancer risk among Black women. METHODS: The study included 1,655 Black women (821 incident breast cancer cases and 834 controls) from the Women's Circle of Health Study (WCHS)...
February 15, 2023: Cancer Causes & Control: CCC
https://read.qxmd.com/read/36773012/time-for-optimism-in-als
#39
REVIEW
Philippe Corcia, Christian Lunetta, Patrick Vourc'h, Pierre-François Pradat, Hélène Blasco
BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron diseases in adults. Nevertheless, ALS remains fatal despite decades of research and clinical trials which led to negative conclusions until recently in regard to four specific treatments. It is well known that we can learn from failures and we consider that time is coming to present a positive insight of this disease. METHOD: We did a literature search using PubMed and Scopus for articles published in English from Jan 1, 2016, to Jun 30, 2022 dealing with "amyotrophic lateral sclerosis", diagnosis, treatment and biomarkers...
February 11, 2023: European Journal of Neurology
https://read.qxmd.com/read/36711847/circulating-endothelial-progenitor-cells-reduce-the-risk-of-alzheimer-s-disease
#40
Yixuan Wang, Jinghan Huang, Ting Fang Alvin Ang, Yibo Zhu, Qiushan Tao, Jesse Mez, Michael Alosco, Gerald V Denis, Anna Belkina, Ashita Gurnani, Mark Ross, Bin Gong, Jingyan Han, Kathryn L Lunetta, Thor D Stein, Rhoda Au, Lindsay A Farrer, Xiaoling Zhang, Wei Qiao Qiu
Cerebrovascular damage coexists with Alzheimer's disease (AD) pathology and increases AD risk. However, it is unclear whether endothelial progenitor cells reduce AD risk via cerebrovascular repair. By using the Framingham Heart Study (FHS) offspring cohort, which includes data on different progenitor cells, the incidence of AD dementia, peripheral and cerebrovascular pathologies, and genetic data (n = 1,566), we found that elevated numbers of circulating endothelial progenitor cells with CD34+CD133+ co-expressions had a dose-dependent association with decreased AD risk (HR = 0...
January 18, 2023: medRxiv
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