Article
Multidisciplinary Sciences
Kirsten Voorhies, Ruofan Bie, John E. Hokanson, Scott T. Weiss, Ann Chen Wu, Julian Hecker, Georg Hahn, Dawn L. Demeo, Edwin Silverman, Michael H. Cho, Christoph Lange, Sharon M. Lutz
Summary: This study examined the use of neural networks for modeling complex phenotypes and covariate adjustments, finding that neural networks outperformed traditional regression approaches when the phenotypic distribution was skewed.
Article
Respiratory System
Don B. Sanders, James E. Slaven, Karen Maguiness, James F. Chmiel, Clement L. Ren
Summary: Changes in height-for-age in the first 6 years of life in children with cystic fibrosis are associated with pulmonary function at the age of 6-7 years. Maintaining height above the 50th percentile is beneficial for pulmonary function in children with CF.
ANNALS OF THE AMERICAN THORACIC SOCIETY
(2021)
Article
Public, Environmental & Occupational Health
Cui Wang, Hongbo Chen, Shaomei Shang
Summary: This cross-sectional study found that 9.9% of Chinese college students had mild depression, and 7.4% had moderate-to-severe depression. Mild depression was associated with reduced FEV1, while moderate-to-severe depression was significantly and negatively related to FEV1. Severity of depression was an independent predictor of decreased FEV1 among Chinese college students.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Pediatrics
Wolfgang Goepel, Angela Kribs, Claudia Roll, Christian Wieg, Norbert Teig, Thomas Hoehn, Lars Welzing, Matthias Vochem, Marc Hoppenz, Christoph Buehrer, Katrin Mehler, Mechthild Hubert, Joachim Eichhorn, Susanne Schmidtke, Tanja Katrin Rausch, Inke Regina Koenig, Christoph Haertel, Bernd Roth, Egbert Herting
Summary: This study investigated whether the forced expiratory volume within 1 second (FEV1) at 5-9 years of age was lower in preterm children who received less invasive surfactant administration (LISA) compared to those who received surfactant via an endotracheal tube. The study found that there was no significant difference in the proportion of children with subnormal FEV1 between the two groups.
Article
Environmental Sciences
Chih-Wen Wang, Szu-Chia Chen, Da-Wei Wu, Huang-Chi Chen, Hung-Hsun Lin, Hung Su, Jen-taie Shiea, Wen-Yi Lin, Chih-Hsing Hung, Chao-Hung Kuo
Summary: This study found that dermal phthalate levels were significantly associated with decreases in lung function tests, particularly with FVC and FEV1.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2021)
Article
Medicine, General & Internal
You Hoon Jeon, Kangmo Ahn, Jihyun Kim, Meeyong Shin, Soo-Jong Hong, So-Yeon Lee, Bok Yang Pyun, Taek Ki Min, Minyoung Jung, Jeongmin Lee, Tae Won Song, Hye-Young Kim, Sooyoung Lee, Kyunguk Jeong, Yoonha Hwang, Minji Kim, Yong Ju Lee, Min Jung Kim, Ji Young Lee, Hye Yung Yum, Gwang Cheon Jang, Young A. Park, Jeong Hee Kim
Summary: This study examined the clinical characteristics of AD in Korean children and adolescents, revealing that early onset groups tend to be more severe and often accompanied by other allergic diseases, highlighting the importance of early management.
JOURNAL OF KOREAN MEDICAL SCIENCE
(2022)
Article
Respiratory System
Yong Suk Jo, Ji-Yong Moon, Yong Bum Park, Yee Hyung Kim, Soo-Jung Um, Woo Jin Kim, Hyoung Kyu Yoon, Kwang Ha Yoo, Ki-Suck Jung, Chin Kook Rhee
Summary: This study investigated the longitudinal changes in lung function in eosinophilic COPD patients and the effects of inhaled corticosteroid (ICS) therapy. The results showed that eosinophilic COPD had a more favorable annual rate of decline in forced expiratory volume in 1 s (FEV1) compared to non-eosinophilic COPD, and ICS therapy did not have any beneficial effects on the changes in FEV1.
BMC PULMONARY MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Jiyong Kim, Seong Hun Park, Jong Moon Kim
Summary: This study used real-world data from COVID-19 patients in South Korea to investigate the impact of patient demographics and comorbidities on the infection rate and severity of COVID-19. The results showed that patients with certain diseases such as pulmonary disease, diabetes, and cardiovascular disease had a higher infection rate, while patients with hyperlipidemia, autoimmune disease, and cancer had a lower infection rate. Additionally, kidney disease, hypertension, and dementia were associated with the severity of COVID-19.
JMIR PUBLIC HEALTH AND SURVEILLANCE
(2022)
Article
Clinical Neurology
Gang Peng, Yujing Xin, Xiaojing Cao, Yi Chen, Yi Yang, Xinyuan Zhang, Xiang Zhou
Summary: This study investigated the association between depressive symptoms and lung function in US adults and found a correlation, especially among non-Hispanic White individuals.
JOURNAL OF AFFECTIVE DISORDERS
(2023)
Article
Dermatology
Ludovic Amruthalingam, Nora Mang, Philippe Gottfrois, Alvaro Gonzalez Jimenez, Julia-Tatjana Maul, Michael Kunz, Marc Pouly, Alexander A. Navarini
Summary: This study proposes an automated system based on deep learning models to quantify the surface of hand eczema lesions and determine their anatomical stratification. The results showed that the proposed method can predict the anatomical stratification of hand eczema lesions and serve as a support for evaluating the severity of hand eczema. The system achieved high precision and sensitivity in anatomical mapping and lesion segmentation.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Critical Care Medicine
Yunus Colak, Shoaib Afzal, Borge G. Nordestgaard, Peter Lange, Jorgen Vestbo
Summary: This study suggests that it is possible to identify individuals who may develop chronic obstructive pulmonary disease (COPD) at an early age. Smoking exposure is an important factor associated with the development of COPD, with smokers having a higher risk compared to non-smokers.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2021)
Article
Obstetrics & Gynecology
Yan Jiao, Yan Liu, Hongyuan Li, Zimeng Song, Shiliang Wang, Jiao Zhang, Jian Li, Jia Liu, Peng Wang, Yanhong Chen
Summary: HELLP syndrome is a severe complication of pregnancy involving multiple systems of the whole body. There is limited evidence on the association between proteinuria and the severity of HELLP and its maternal and neonatal outcomes. A study on 106 pregnant women showed that increased proteinuria was related to the severity of HELLP and its adverse outcomes.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Environmental Sciences
Chih-Wen Wang, Da-Wei Wu, Szu-Chia Chen, Huang-Chi Chen, Hung-Hsun Lin, Hung Su, Jen-taie Shiea, Wen-Yi Lin, Chih-Hsing Hung, Chao-Hung Kuo
Summary: Phthalate concentrations in dust are related to respiratory disease. Dermal DEP level is positively associated with changes in lung function test values and is mediated by absolute eosinophil count.
ENVIRONMENTAL RESEARCH
(2021)
Article
Allergy
So-Hee Lee, Kyung-Min Ahn, Suh-Young Lee, Sun-Sin Kim, Heung-Woo Park
Summary: This study found that in healthy individuals, blood eosinophil count (BEC) is associated with a decline in lung function, and consistently high BEC is an independent risk factor for accelerated decline in FEV1. Using BEC may help identify healthy individuals at high risk for developing chronic lung disease and enable tailored preventive strategies.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
(2021)
Article
Otorhinolaryngology
Eleftherios Ntouniadakis, Josefin Sundh, Mathias von Beckerath
Summary: The study aimed to investigate the correlations among anatomic Cotton-Myer classification, pulmonary function tests (PFTs), and patient-perceived dyspnea or dysphonia in patients with subglottic stenosis, as well as to identify measurements accurately reflecting treatment effects. The results showed that a combination of the expiratory disproportion index or peak expiratory flow with the Dyspnea Index was a feasible measurement for monitoring adult subglottic stenosis.
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
(2022)
Article
Endocrinology & Metabolism
Melis A. Aksit, Rhonda G. Pace, Briana Vecchio-Pagan, Hua Ling, Johanna M. Rommens, Pierre-Yves Boelle, Loic Guillot, Karen S. Raraigh, Elizabeth Pugh, Peng Zhang, Lisa J. Strug, Mitch L. Drumm, Michael R. Knowles, Garry R. Cutting, Harriet Corvol, Scott M. Blackman
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2020)
Article
Geriatrics & Gerontology
Ruslan Dorfman, Zana London, Mark Metias, Boyko Kabakchiev, Gouri Mukerjee, Andrea Moser
JOURNAL OF THE AMERICAN MEDICAL DIRECTORS ASSOCIATION
(2020)
Article
Genetics & Heredity
Yu-Chung Lin, Katherine Keenan, Jiafen Gong, Naim Panjwani, Julie Avolio, Fan Lin, Damien Adam, Paula Barrett, Stephanie Begin, Yves Berthiaume, Lara Bilodeau, Candice Bjornson, Janna Brusky, Caroline Burgess, Mark Chilvers, Raquel Consunji-Araneta, Guillaume Cote-Maurais, Andrea Dale, Christine Donnelly, Lori Fairservice, Katie Griffin, Natalie Henderson, Angela Hillaby, Daniel Hughes, Shaikh Iqbal, Jennifer Itterman, Mary Jackson, Emma Karlsen, Lorna Kosteniuk, Lynda Lazosky, Winnie Leung, Valerie Levesque, Emilie Maille, Dimas Mateos-Corral, Vanessa McMahon, Mays Merjaneh, Nancy Morrison, Michael Parkins, Jennifer Pike, April Price, Bradley S. Quon, Joe Reisman, Clare Smith, Mary Jane Smith, Nathalie Vadeboncoeur, Danny Veniott, Terry Viczko, Pearce Wilcox, Richard van Wylick, Garry Cutting, Elizabeth Tullis, Felix Ratjen, Johanna M. Rommens, Lei Sun, Melinda Solomon, Anne L. Stephenson, Emmanuelle Brochiero, Scott Blackman, Harriet Corvol, Lisa J. Strug
Summary: By studying genetic and clinical indicators in CF patients, a model for predicting CFRD was successfully constructed and validated in different studies. Results showed that factors such as sex, CFTR severity score, and specific genetic variants were strong predictors, with the model performing well in different populations.
GENETICS IN MEDICINE
(2021)
Article
Multidisciplinary Sciences
Robert Rauscher, Giovana B. Bampi, Marta Guevara-Ferrer, Leonardo A. Santos, Disha Joshi, David Mark, Lisa J. Strug, Johanna M. Rommens, Manfred Ballmann, Eric J. Sorscher, Kathryn E. Oliver, Zoya Ignatova
Summary: Epistasis is a phenomenon where mutations depend on each other and the genetic context. In the case of cystic fibrosis, positive epistasis was observed between intragenic mutations in the CFTR gene, enhancing protein expression and activity. Functional studies revealed that alteration in ribosomal velocity is the underlying mechanism for this synergy.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Amy Shakeshaft, Naim Panjwani, Robert McDowall, Holly Crudgington, Javier Pena Ceballos, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Alessandro Orsini, Mark Rees, Guido Rubboli, Kaja K. Selmer, Anna B. Smith, Pasquale Striano, Marte Syvertsen, Inga Talvik, Rhys H. Thomas, Jana Zarubova, Mark P. Richardson, Lisa J. Strug, Deb K. Pal
Summary: Impulsivity is elevated in Juvenile Myoclonic Epilepsy (JME) patients, with associations found between higher impulsivity and male gender, frequent absence seizures, and lack of circadian seizure patterns. High impulsivity is also linked to psychiatric adverse events in levetiracetam treatment.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2021)
Article
Psychiatry
Christie L. Burton, Mathieu Lemire, Bowei Xiao, Elizabeth C. Corfield, Lauren Erdman, Janita Bralten, Geert Poelmans, Dongmei Yu, S-M Shaheen, Tara Goodale, Vanessa M. Sinopoli, Noam Soreni, Gregory L. Hanna, Kate D. Fitzgerald, David Rosenberg, Gerald Nestadt, Andrew D. Paterson, Lisa J. Strug, Russell J. Schachar, Jennifer Crosbie, Paul D. Arnold
Summary: The study investigated genetic variants associated with obsessive-compulsive (OC) traits and found shared genetic risk between OC traits and obsessive-compulsive disorder (OCD). The research identified a significant genetic variant for OC traits and demonstrated the feasibility of using trait-based approaches for genetic discovery in community samples.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Genetics & Heredity
Bo Chen, Radu V. Craiu, Lisa J. Strug, Lei Sun
Summary: The X-chromosome is often excluded from genome-wide association studies due to analytical challenges. A new regression-based association test for X-chromosomal variants is proposed, with theoretical justifications for its robustness and improved power. Revisiting several published association studies provides supporting evidence for the proposed method.
GENETIC EPIDEMIOLOGY
(2021)
Correction
Genetics & Heredity
Yu-Chung Lin, Katherine Keenan, Jiafen Gong, Naim Panjwani, Julie Avolio, Fan Lin, Damien Adam, Paula Barrett, Stephanie Begin, Yves Berthiaume, Lara Bilodeau, Candice Bjornson, Janna Brusky, Caroline Burgess, Mark Chilvers, Raquel Consunji-Araneta, Guillaume Cote-Maurais, Andrea Dale, Christine Donnelly, Lori Fairservice, Katie Griffin, Natalie Henderson, Angela Hillaby, Daniel Hughes, Shaikh Iqbal, Jennifer Itterman, Mary Jackson, Emma Karlsen, Lorna Kosteniuk, Lynda Lazosky, Winnie Leung, Valerie Levesque, Emilie Maille, Dimas Mateos-Corral, Vanessa McMahon, Mays Merjaneh, Nancy Morrison, Michael Parkins, Jennifer Pike, April Price, Bradley S. Quon, Joe Reisman, Clare Smith, Mary Jane Smith, Nathalie Vadeboncoeur, Danny Veniott, Terry Viczko, Pearce Wilcox, Richard van Wylick, Garry Cutting, Elizabeth Tullis, Felix Ratjen, Johanna M. Rommens, Lei Sun, Melinda Solomon, Anne L. Stephenson, Emmanuelle Brochiero, Scott Blackman, Harriet Corvol, Lisa J. Strug
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Fan Wang, Naim Panjwani, Cheng Wang, Lei Sun, Lisa J. Strug
Summary: This article investigates the important feature of mucus obstruction in cystic fibrosis airways and identifies the genes MUC20 and MUC4 as significant loci for lung disease through a genome-wide association study. The article proposes a new colocalization test method that can determine the responsible gene(s) and guide future functional studies.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Respiratory System
Gengming He, Naim Panjwani, Julie Avolio, Hong Ouyang, Shaf Keshavjee, Johanna M. Rommens, Tanja Gonska, Theo J. Moraes, Lisa J. Strug
Summary: RNA sequencing analysis of cultured and fresh HNE and HBE revealed that cultured HNE can replicate the expression profile of CF lung disease modifier genes in cultured HBE, indicating consistent functional interactions between these genes in the two models.
JOURNAL OF CYSTIC FIBROSIS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Matthew A. Patetta, Kyung R. Kim, Clayton W. Commander, Peter R. Bream
Summary: This study aimed to investigate the safety and efficacy of attaching a weighted extension to prefabricated gastrojejunostomy (GJ) tubes and determine whether it reduces tip reflux. The study included 15 patients with 64 GJ tubes, and found that the lifespan of GJ tubes with weighted extensions was significantly longer than unmodified tubes. The results suggest that adding a weighted extension to the distal end of GJ tubes is a safe and effective modification for patients requiring tube replacement.
JOURNAL OF VASCULAR AND INTERVENTIONAL RADIOLOGY
(2023)
Article
Genetics & Heredity
Lehang Zhong, Lisa J. J. Strug
Summary: Variation in RNA-Seq data presents modeling challenges for DE analysis. Statistical methods address small sample sizes but often produce different conclusions. RoPE, a new approach, adjusts for variation and uses a robust DE test, showing improved performance and reliable error rate control.
GENETIC EPIDEMIOLOGY
(2023)
Article
Genetics & Heredity
Quan Sun, Weifang Liu, Jonathan D. Rosen, Le Huang, Rhonda G. Pace, Hong Dang, Paul J. Gallins, Elizabeth E. Blue, Hua Ling, Harriet Corvol, Lisa J. Strug, Michael J. Bamshad, Ronald L. Gibson, Elizabeth W. Pugh, Scott M. Blackman, Garry R. Cutting, Wanda K. O'Neal, Yi-Hui Zhou, Fred A. Wright, Michael R. Knowles, Jia Wen, Yun Li
Summary: In this study, the researchers conducted genome-wide association studies (GWAS) and whole genome sequencing (WGS) on cystic fibrosis (CF) cases using genotype imputation. The results showed that imputation increased the sample size and improved the accuracy of polygenic risk score (PRS) prediction. They also built a CF-specific reference panel that can benefit other investigators studying CF.
HUMAN GENETICS AND GENOMICS ADVANCES
(2022)
Article
Medicine, General & Internal
Jennifer Taher, Chloe Mighton, Sunakshi Chowdhary, Selina Casalino, Erika Frangione, Saranya Arnoldo, Erin Bearss, Alexandra Binnie, Yvonne Bombard, Bjug Borgundvaag, Howard Chertkow, Marc Clausen, Luke Devine, Hanna Faghfoury, Steven Marc Friedman, Anne-Claude Gingras, Zeeshan Khan, Tony Mazzulli, Allison McGeer, Shelley L. McLeod, Trevor J. Pugh, David Richardson, Jared Simpson, Seth Stern, Lisa Strug, Ahmed Taher, Jordan Lerner-Ellis
Summary: This study aims to investigate the impact of antibody response, genetic differences, and viral lineage on COVID-19 patient outcomes, as well as evaluate the effects of receiving this information on patients.
Article
Medicine, Research & Experimental
Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, Chen Wang, Atlas Khan, Manal Alaamery, Tomoko Nakanishi, Sirui Zhou, Vincenzo Forgetta, Robert J. M. Eveleigh, Mathieu Bourgey, Naveed Aziz, Steven J. M. Jones, Bartha Knoppers, Stephen W. Scherer, Lisa J. Strug, Pierre Lepage, Jiannis Ragoussis, Guillaume Bourque, Jahad Alghamdi, Nora Aljawini, Nour Albes, Hani M. Al-Afghani, Bader Alghamdi, Mansour S. Almutairi, Ebrahim Sabri Mahmoud, Leen Abu-Safieh, Hadeel El Bardisy, Fawz S. Al Harthi, Abdulraheem Alshareef, Bandar Ali Suliman, Saleh A. Alqahtani, Abdulaziz Almalik, May M. Alrashed, Salam Massadeh, Vincent Mooser, Mark Lathrop, Mohamed Fawzy, Yaseen M. Arabi, Hamdi Mbarek, Chadi Saad, Wadha Al-Muftah, Junghyun Jung, Serghei Mangul, Radja Badji, Asma Al Thani, Said I. Ismail, Ali G. Gharavi, Malak S. Abedalthagafi, J. Brent Richards, David B. Goldstein, Krzysztof Kiryluk
Summary: The study found no evidence of association between rare pLOF variants in 13 candidate genes and severe COVID-19 outcomes. Only one rare pLOF mutation was identified across these genes among cases with severe COVID-19, and there was no enrichment of pLOFs in severe cases compared to controls or mild COVID-19 cases.
JOURNAL OF CLINICAL INVESTIGATION
(2021)