Results 141 to 150 of about 10,331,359 (299)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Respiratory medication use in Australia 2003–2013: treatment of asthma and COPD [PDF]

, 2015
This report describes patterns of dispensing of respiratory medications in Australia through detailed analyses of Pharmaceutical Benefits Scheme data, as well as other sources, to draw inferences about respiratory medication use among patients with ...
Leanne Poulos, Patricia Correll, H. K. Reddel, Rosario Ampon, Guy Marks   +4 more
core  

Deciphering the microbial landscape of lower respiratory tract in health and respiratory diseases

The microbiota plays an important role in maintaining lung homeostasis and the development of respiratory diseases. However, there have not been detailed characteristics of lung microbiome in health and respiratory diseases. Bronchoalveolar lavage fluid of 43 healthy individuals, 23 COVID patients, and 28 non-small cell lung cancer patients was ...
Cheng Cheng, Yangqian Li, Suyan Wang, Haoyu Wang, Dan Liu, Qinglan Wang, You Che, Linlin Xue, Ningning Chao, Xuan He, Chengping Li, Huohua Tian, Jing Zhou, Xin Wang, Yurui Yang, Yuqi Zhu, Renjie Xu, Zhoufeng Wang, Weimin Li   +18 more
openaire   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Prevalence and Outpatient Clinical Diagnostic Approaches for Common Acute Respiratory Tract Infections in Children Under Five Years of Age: A Cross-Sectional Study

Pediatric Health, Medicine and Therapeutics
Munanura Turyasiima,1,2 Gloria Kiconco,1,3 Walufu Ivan Egesa,4 Sabinah Twesigemukama,1 Martin Nduwimana1 1Department of Pediatrics and Child Health, Kampala International University, Kampala, Uganda; 2Department of Standards Compliance Accreditation and ...
Turyasiima M, Kiconco G, Egesa WI, Twesigemukama S, Nduwimana M   +4 more
doaj  

Tezepelumab in Chinese Patients With Severe Chronic Rhinosinusitis With Nasal Polyps: A Prespecified Subgroup Analysis of the Phase 3 WAYPOINT Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) in Chinese patients often exhibits a mixed Type 1/2/3 inflammatory phenotype (63%), potentially impacting the efficacy of biologics targeting Type 2 inflammation. This prespecified subgroup analysis of WAYPOINT (NCT04851964) evaluated the efficacy and safety of tezepelumab in Chinese
Li Hu, Houyong Li, Xicai Sun, Quan Liu, Yu Xu, Jiangang Fan, Andrew Foster, Claudia Chen, Yun Chon, Dehui Wang   +9 more
wiley   +1 more source

Clinical Longitudinal Evaluation After Regimen Stop (CLEAR) of Dupilumab in Chronic Rhinosinusitis With Nasal Polyps (CRSwNP)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Long‐term management strategies for severe chronic rhinosinusitis with nasal polyps (CRSwNP) increasingly include biologic therapy targeting Type 2 inflammation. However, data on outcomes after complete discontinuation of dupilumab following sustained disease control are scarce.
Patrick Huber, Manuel Lasch, Veronika Volgger, Clemens Stihl, Philipp Teupe, Fabienne Oettgen, Sophia Gantner, Moritz Gröger   +7 more
wiley   +1 more source

Poly(I:C)‐Activated Nasal Fibroblasts Promote Eosinophil Recruitment in CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by persistent mucosal inflammation and eosinophilic infiltration. Although epithelial and immune cells have been widely studied, the role of nasal fibroblasts in innate immune activation and eosinophil recruitment remains unclear.
Chaewon Shin, An‐Gi Kim, Byeong Min Yu, Woo‐Keun Kwon, Min‐Ho Hwang, Joo‐Hoo Park   +5 more
wiley   +1 more source

The Burden of Respiratory Syncytial Virus Lower Respiratory Tract Disease in Infants in the United States: A Synthesis. [PDF]

J Infect Dis, 2022
Simões EAF.
europepmc   +1 more source