Results 51 to 60 of about 228,839 (261)

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

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa, Bruna Fagundes Rodrigues Alaite, Vera Lúcia Gil‐da‐Silva‐Lopes, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Tracheal sound analysis for automatic detection of respiratory depression in adult patients during cataract surgery under sedation

Journal of Medical Signals and Sensors, 2018
Background: Tracheal sound analysis is a simple way to study the abnormalities of upper airway like airway obstruction. Hence, it may be an effective method for detection of alveolar hypoventilation and respiratory depression.
Neda Esmaeili, Hossein Rabbani, Soheila Makaremi, Marzieh Golabbakhsh, Mahmoud Saghaei, Mehdi Parviz, Khosro Naghibi   +6 more
doaj   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Donepezil reverses buprenorphine-induced central respiratory depression in anesthetized rabbits

Biological Research, 2009
Buprenorphine is a mixed opioid receptor agonist-antagonist used in acute and chronic pain management. Although this agent's analgesic effect increases in a dose-dependent manner, buprenorphine-induced respiratory depression shows a marked ceiling effect
SHIGEKI SAKURABA, MIKI TSUJITA, HIROFUMI ARISAKA, JUNZO TAKEDA, KAZUICHI YOSHIDA, SHUN-ICHI KUWANA   +5 more
doaj  

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

Presentation of occult Chiari I malformation following spinal anesthesia

Indian Journal of Anaesthesia, 2012
Chiari I malformation (CM-I) manifests with tonsillar herniation below foramen magnum. These patients are at high risk of respiratory depression and bulbar dysfunction in the perioperative period with underlying obstructive sleep apnea. However, the safe
Saravanan P Ankichetty, Saleh Khunein, Lashmi Venkatraghavan   +2 more
doaj   +1 more source

Environmental Exposures, Chronic Sinusitis, and Olfaction in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Environmental air pollutants may contribute to chronic rhinosinusitis (CRS), but their relationship with upper airway disease in people with cystic fibrosis (CF) remains poorly understood. This study evaluated associations between long‐term ambient air pollutant exposure and CRS severity and olfactory dysfunction in adults with CF ...
Benton Tullis, Larissa Nicolas, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Sei Chung, Patricia Eshaghian, Yuqing A. Gao, Anne Getz, Amarbir S. Gill, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Todd Kingdom, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Meghan Norris, Jonathan B. Overdevest, Zara M. Patel, Katie Poch, Rodney J. Schlosser, Kristine A. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor, Daniel M. Beswick   +31 more
wiley   +1 more source

Pediatric Human Olfactory Epithelium Mirrors Adult Structure and Function in a Human Olfactory Organoid Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective This study investigated the developmental differences in structure, gene expression, and function of human olfactory epithelium (OE) using pediatric and adult specimens and human olfactory organoids. Background Olfactory dysfunction (OD) is characterized by loss or alterations in the sense of smell and has an age‐related increase in ...
Randy Bach, Ankit Chauhan, Michael Xiang, Kang‐Hoon Kim, James N. Palmer, Nithin D. Adappa, Michael A. Kohanski, Noam A. Cohen, Hong Wang, Jennifer E. Douglas   +9 more
wiley   +1 more source

Bioabsorbable, subcutaneous naltrexone implants mitigate fentanyl‐induced respiratory depression at 3 months—A pilot study in male canines

Physiological Reports
The aim of this study is to determine if extended‐release, bioabsorbable, subcutaneous naltrexone (NTX) implants can mitigate respiratory depression after an intravenous injection (IV) of fentanyl. Six different BIOabsorbable Polymeric Implant Naltrexone
Robert L. Joyner, Joseph A. Hollenbaugh, Donald D'Aquila, Marc Fishman, Steven M. Cohen, Veera Holdai, Jeffrey D. Benner   +6 more
doaj   +1 more source