Results 91 to 100 of about 1,696,291 (270)

The PRIMERO birth cohort: Design and baseline characteristics

Journal of Allergy and Clinical Immunology: Global
Background: Although early-life respiratory illnesses (RIs) are linked to childhood asthma, it is unclear whether children are predisposed to both conditions or if RIs induce alterations that lead to asthma.
Jonathan I. Witonsky, MD, MAS, Jennifer R. Elhawary, MS, Celeste Eng, BS, Sam S. Oh, PhD, MPH, Sandra Salazar, Maria G. Contreras, BS, Vivian Medina, RN, BSN, SC, Elizabeth A. Secor, MA, Priscilla Zhang, BS, Jamie L. Everman, PhD, Ana Fairbanks-Mahnke, BS, Elmar Pruesse, PhD, Satria P. Sajuthi, PhD, Chih-Hao Chang, PhD, MPH, Tsunami Rosado Guerrero, BS, Keyshla Canales Fuentes, BS, Natalie Lopez, MD, Chris Angely Montañez-López, MS, Emily Vazquez Morales, MD, Nicole Vazquez Morales, MD, Richeliz Alfonso Otero, MD, Raymarie Colon Rivera, BS, Leysha Rodriguez, BA, Gabriela Vazquez, BS, Donglei Hu, PhD, Scott Huntsman, MS, Nathan D. Jackson, PhD, Yingchun Li, MD, PhD, Andrew Morin, MA, Natalie A. Nieves, BS, Cydney Rios, BS, Gonzalo Serrano, BS, Blake J.M. Williams, MS, Elad Ziv, MD, Camille M. Moore, PhD, Dean Sheppard, MD, Esteban González Burchard, MD, MPH, Max A. Seibold, PhD, Jose R. Rodríguez-Santana, MD   +38 more
doaj   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

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

Viral Respiratory Illnesses

Medical Clinics of North America, 1983
Anderson, Larry J., Patriarca, Peter A., Hierholzer, John C., Noble, Gary R.   +3 more
openaire   +2 more sources

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Respiratory Illness in Children [PDF]

Archives of Disease in Childhood, 1983
openaire   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Editorial: Oxidative stress related to cellular metabolism in lung health and diseases

Frontiers in Pharmacology, 2022
Karuppusamy Arunachalam, Karuppusamy Arunachalam, Karuppusamy Arunachalam, Krishnan Anand, Subramanian Palanisamy, Subramanian Palanisamy, Vikas Anathy   +6 more
doaj   +1 more source

Diphtheria Antitoxin Production and Procurement Practices and Challenges

Emerging Infectious Diseases
Treatment of respiratory diphtheria requires prompt administration of equine diphtheria antitoxin (DAT) to neutralize circulating toxin. We conducted surveys of key procurement agencies and manufacturers currently engaged in DAT manufacturing or ...
Caroline Marshall, William Perea Caro, Alejandro Costa, Lee Lee Ho, Peter J. Gardner, Christophe Guitton, Julien Potet, Erin Sparrow   +7 more
doaj   +1 more source

Middle East Respiratory Syndrome [PDF]

This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus\ue2\u20ac\u201dMERS-CoV.Podcast: 4.08Created: 7/7/2014 by National Center for Immunization and ...

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