Article
Endocrinology & Metabolism
Tonet Seres-Noriega, Marga Gimenez, Veronica Perea, Laura Boswell, Clara Vinals, Jesus Blanco, Irene Vinagre, Adriana Pane, Enric Esmatjes, Ignacio Conget, Antonio J. Amor
Summary: This study evaluated the concordance between ESC/EASD-2019 guidelines and Steno-Risk cardiovascular risk scales in individuals with T1D without CVD, showing that Steno-Risk was better at identifying patients with atherosclerosis compared to ESC/EASD-2019.
Article
Urology & Nephrology
Jose Lazaro-Guevara, Julio Fierro-Morales, A. Hunter Wright, River Gunville, Christopher Simeone, Scott G. Frodsham, Melissa H. Pezzolesi, Courtney A. Zaffino, Laith Al-Rabadi, Nirupama Ramkumar, Marcus G. Pezzolesi
Summary: This study investigated the genetic basis of nondiabetic kidney disease (NDKD) and diabetic kidney disease (DKD) through targeted NGS, finding rare diagnostic variants consistent with clinical diagnoses in 19% of NDKD patients and in 22% of DKD patients. Additionally, genetic variants suggestive of NDKD were detected in 3% of diabetic patients. These findings suggest that rare variants in kidney disease-related genes may contribute to the pathogenesis of DKD and NDKD in patients with diabetes.
AMERICAN JOURNAL OF NEPHROLOGY
(2021)
Article
Genetics & Heredity
Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari
Summary: This study aimed to investigate the genetic causes of end-stage renal disease (ESRD) in Saudi kidney disease patients, using a targeted next-generation sequencing gene panel. The results identified several genetic variants associated with ESRD and CKD in this population, including novel variants not previously reported in other populations. Further studies are needed to validate these findings in larger sample sizes and different ethnic groups.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Evangelos Pavlos Myserlis, Marios K. Georgakis, Stacie L. Demel, Padmini Sekar, Jaeyoon Chung, Rainer Malik, Hyacinth I. Hyacinth, Mary E. Comeau, Guido J. Falcone, Carl D. Langefeld, Jonathan Rosand, Daniel Woo, Christopher D. Anderson
Summary: Researchers developed a genomic risk score that predicts the risk of intracerebral hemorrhage (ICH) in individuals of European ancestry. The score showed better predictive power than standard clinical risk factors and may improve clinical decision making for high-risk populations.
Article
Cell Biology
Melissa K. Jones, Luz D. Orozco, Han Qin, Tom Truong, Patrick Caplazi, Justin Elstrott, Zora Modrusan, Shawnta Y. Chaney, Marion Jeanne
Summary: Rare coding variants in the DRAM2 gene cause a type of retinal dystrophy involving early macular damage through unknown mechanisms. DRAM2 gene was found to be expressed in human eyes and its expression changes were observed in eyes with macular diseases like AMD. Studying in vitro and in vivo models, researchers discovered that loss of DRAM2 in human stem cell-derived retinal organoids caused the presence of additional mesenchymal cells, while loss of Dram2 in mice resulted in increased proliferation of choroid cells and worsened choroidal neovascular lesions. Additionally, loss of DRAM2 in human retinal pigment epithelial cells increased susceptibility to stress-induced cell death, and in mice, it caused age-related photoreceptor degeneration. These findings highlight the complexity of DRAM2 function and the importance of considering cell type and species-specific expression when studying retinal dystrophies.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Oncology
Thomas K. Albert, Marta Interlandi, Martin Sill, Monika Graf, Natalia Moreno, Kerstin Menck, Astrid Rohlmann, Viktoria Melcher, Sonja Korbanka, Gerd Meyer zu Hoerste, Tobias Lautwein, Michael C. Fruehwald, Christian F. Krebs, Doerthe Holdhof, Melanie Schoof, Annalen Bleckmann, Markus Missler, Martin Dugas, Ulrich Schueller, Natalie Jaeger, Stefan M. Pfister, Kornelius Kerl
Summary: This study highlights the significance of intercellular communication in medulloblastoma, particularly in the sonic hedgehog subgroup where tumor cells display a differentiation blockade. The presence of extracellular vesicles in the tumor niche and their transfer between cells have been identified as potential factors influencing gene expression profiles and tumor behavior.
Article
Health Care Sciences & Services
Emily R. Soper, Sabrina A. Suckiel, Giovanna T. Braganza, Amy R. Kontorovich, Eimear E. Kenny, Noura S. Abul-Husn
Summary: The TTR V142I variant associated with hereditary transthyretin amyloidosis is present in a small percentage of African American and Hispanic/Latinx individuals, increasing the risk for heart failure. Genomic screening can effectively identify individuals at risk for hATTR early on, allowing for prompt risk management to prevent delays in diagnosis and treatment.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Oncology
Hendrik Ballhausen, Minglun Li, Elia Lombardo, Guillaume Landry, Claus Belka
Summary: Prostate motion is significantly correlated with the inner diameter of the lesser pelvis, and a diameter of > 106 mm can predict high prostate motion. The proposed test has 100% sensitivity and negative predictive value for all three characteristics on the lateral axis, and 79% to 100% sensitivity and 95% to 100% negative predictive value on the craniocaudal axis. On the vertical axis, the test has a 98% negative predictive value but is not particularly sensitive. Overall, this predictor can help identify patients at risk of high prostate motion based on a single planning CT.
Article
Clinical Neurology
Julie K. Wisch, Omar H. Butt, Brian A. Gordon, Suzanne E. Schindler, Anne M. Fagan, Rachel L. Henson, Chengran Yang, Anna H. Boerwinkle, Tammie L. S. Benzinger, David M. Holtzman, John C. Morris, Carlos Cruchaga, Beau M. Ances
Summary: Heterogeneity in progression to Alzheimer's disease poses challenges for prognosis and clinical trials. By analyzing CSF proteomics, researchers identified early differences in biomarkers and assessed patterns of preclinical AD development. These findings have important implications for participant selection and potential therapies in clinical trials.
Article
Hematology
Nicholas J. Short, Hagop Kantarjian, Farhad Ravandi, Marina Konopleva, Nitin Jain, Rashmi Kanagal-Shamanna, Keyur P. Patel, Walid Macaron, Tapan M. Kadia, Sa Wang, Jeffrey L. Jorgensen, Joseph D. Khoury, Musa Yilmaz, Partow Kebriaei, Koichi Takahashi, Guillermo Garcia-Manero, Naval Daver, Sean M. Post, Xuelin Huang, Steven M. Kornblau, Sara Pelletier, Wilmer Flores, Jairo Matthews, Rebecca Garris, Elias Jabbour
Summary: This study evaluated the clinical impact of a highly sensitive next-generation sequencing (NGS) MRD assay in acute lymphoblastic leukemia (ALL) patients. The study found that NGS detection could identify patients with a significant risk of relapse, even if they were considered MRD negative by multiparameter flow cytometry (MFC). Early assessment of MRD using NGS provides important prognostic information for predicting relapse risk and long-term survival in ALL patients.
Article
Endocrinology & Metabolism
Emily K. Sims, Susan M. Geyer, S. Alice Long, Kevan C. Herold
Summary: Tractable precision biomarkers for identifying immunotherapy responders in type 1 diabetes are currently lacking. This study hypothesized that proinsulin:C-peptide (PI:C) ratios, as an indicator of beta cell stress, could provide insight into type 1 diabetes progression and responses to immunotherapy. The results showed that elevated baseline PI:C was strongly associated with more rapid progression of diabetes, but teplizumab treatment abrogated this impact. These findings suggest that readouts of active disease, such as PI:C ratio, could be used to identify optimal candidates or timing for type 1 diabetes disease-modifying therapies.
Article
Genetics & Heredity
Danny E. Miller, Lin Lee, Miranda Galey, Renuka Kandhaya-Pillai, Marc Tischkowitz, Deepak Amalnath, Avadh Vithlani, Koutaro Yokote, Hisaya Kato, Yoshiro Maezawa, Aki Takada-Watanabe, Minoru Takemoto, George M. Martin, Evan E. Eichler, Fuki M. Hisama, Junko Oshima
Summary: The targeted long-read sequencing (T-LRS) method was successfully used to identify missing pathogenic variants in Werner syndrome (WS) cases. T-LRS is particularly effective in identifying intronic variants.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Multidisciplinary Sciences
Soo Hyun Cho, Sookyoung Woo, Changsoo Kim, Hee Jin Kim, Hyemin Jang, Byeong C. Kim, Si Eun Kim, Seung Joo Kim, Jun Pyo Kim, Young Hee Jung, Samuel Lockhart, Rik Ossenkoppele, Susan Landau, Duk L. Na, Michael Weiner, Seonwoo Kim, Sang Won Seo
Summary: This study aimed to construct a disease course model from preclinical AD to AD dementia, finding that ADAS-cog 13 scores decreased most rapidly in women APOE epsilon 4 carriers and most slowly in men APOE epsilon 4 non-carriers. The results suggest that both sex and APOE epsilon 4 status have an impact on the progression of AD.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Uwe Schwartz, Maria Llamazares Prada, Stephanie T. Pohl, Mandy Richter, Raluca Tamas, Michael Schuler, Corinna Keller, Vedrana Mijosek, Thomas Muley, Marc A. Schneider, Karsten Quast, Joschka Hey, Claus P. Heussel, Arne Warth, Hauke Winter, Oezdemirhan Sercin, Harry Karmouty-Quintana, Soma S. K. Jyothula, Manish K. Patel, Felix Herth, Ina Koch, Giuseppe Petrosino, Alexandru Titimeaua, Balca R. Mardin, Dieter Weichenhan, Tomasz P. Jurkowski, Charles D. Imbusch, Benedikt Brors, Vladimir Benes, Birgit Jung, David Wyatt, Heiko F. Stahl, Christoph Plass, Renata Z. Jurkowska
Summary: Patients with chronic obstructive pulmonary disease (COPD) are still waiting for curative treatments. We hypothesized that COPD is associated with altered epigenetic signaling in lung cells. We generated genome-wide DNA methylation maps of primary human lung fibroblasts (HLFs) across COPD stages and found early epigenetic changes in COPD, predominantly in regulatory regions. Dysregulation of genes involved in proliferation, DNA repair, and extracellular matrix organization were observed. Furthermore, we identified candidate regulators and demonstrated the potential for novel therapeutic avenues for COPD patients.
Article
Genetics & Heredity
Ya-jun Zhou, Wei Zheng, Qing-hua Zeng, Yang Ye, Ce Wang, Cheng Fang, Chao-jun Liu, Li Niu, Li-ming Wu
Summary: This study provides a comprehensive analysis of the mutational landscape in Chinese NSCLC patients, with implications for further research on ethnic differences in response to targeted therapies.
Editorial Material
Respiratory System
Nicola J. Rowbotham, Alan R. Smyth
JOURNAL OF CYSTIC FIBROSIS
(2017)
Letter
Respiratory System
Nicola J. Rowbotham, Sherie Smith, Paul A. Leighton, Oli C. Rayner, Katie Gathercole, Zoe C. Elliott, Edward F. Nash, Tracey Daniels, Alistair J. A. Duff, Sarah Collins, Suja Chandran, Ursula Peaple, Matthew N. Hurley, Keith Brownlee, Alan R. Smyth
Article
Immunology
Anna L. Furmanski, Jose Ignacio Saldana, Nicola J. Rowbotham, Susan E. Ross, Tessa Crompton
EUROPEAN JOURNAL OF IMMUNOLOGY
(2012)
Review
Respiratory System
Nicola Jane Rowbotham, Sherie Smith, Andrew P. Prayle, Karen A. Robinson, Alan Robert Smyth
Review
Respiratory System
Nicola J. Rowbotham, Sally C. Palser, Sherie J. Smith, Alan R. Smyth
EXPERT REVIEW OF RESPIRATORY MEDICINE
(2019)
Editorial Material
Respiratory System
Nicola J. Rowbotham, Alan R. Smyth
JOURNAL OF CYSTIC FIBROSIS
(2019)
Review
Respiratory System
I. S. Kalaitzis, N. J. Rowbotham, S. J. Smith, A. R. Smyth
JOURNAL OF CYSTIC FIBROSIS
(2020)
Article
Pediatrics
Alan R. Smyth, Sherie J. Smith, Nicola J. Rowbotham
PAEDIATRIC RESPIRATORY REVIEWS
(2020)
Article
Respiratory System
N. J. Rowbotham, S. J. Smith, G. Davies, T. Daniels, Z. C. Elliott, K. Gathercole, O. C. Rayner, A. R. Smyth
JOURNAL OF CYSTIC FIBROSIS
(2020)
Article
Respiratory System
Gwyneth Davies, Nicola J. Rowbotham, Sherie Smith, Zoe C. Elliot, Katie Gathercole, Oli Rayner, Paul A. Leighton, Sophie Herbert, Alistair J. A. Duff, Suja Chandran, Tracey Daniels, Edward F. Nash, Alan R. Smyth
JOURNAL OF CYSTIC FIBROSIS
(2020)
Article
Clinical Neurology
Michael P. Yanney, Andrew P. Prayle, Nicola J. Rowbotham, Miguel Kurc, Sean Tilbrook, Nabeel Ali
FRONTIERS IN NEUROLOGY
(2020)
Article
Respiratory System
Sherie Smith, Nicola Rowbotham, Gwyneth Davies, Katie Gathercole, Sarah J. Collins, Zoe Elliott, Sophie Herbert, Lorna Allen, Christabella Ng, Alan Smyth
BMJ OPEN RESPIRATORY RESEARCH
(2020)
Review
Medicine, General & Internal
Sherie Smith, Nicola J. Rowbotham, Edward Charbek
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2018)
Article
Respiratory System
Rebecca J. Calthorpe, Sherie J. Smith, Nicola J. Rowbotham, Paul A. Leighton, Gwyneth Davies, Tracey Daniels, Katie Gathercole, Lorna Allen, Zoe C. Elliott, Alan R. Smyth
BMJ OPEN RESPIRATORY RESEARCH
(2020)