Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
JOURNAL ARTICLE
Tess Levy, Jacob Gluckman, Paige M Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J Lloyd Holder, M Pilar Trelles, Kristina Johnson, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava
BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome...
May 10, 2024: Journal of Neurodevelopmental Disorders
#22
JOURNAL ARTICLE
Vineet Punia, Pavel Klein, Temenuzhka Mihaylova, Victor Biton, Omar Samad, Leock Y Ngo, Dinesh Kumar, Manoj Malhotra
ELEVATE (Study 410; NCT03288129) is the first prospective, multicenter, open-label, Phase IV study of perampanel as monotherapy or first adjunctive therapy in patients aged ≥ 4 years with focal-onset seizures or generalized tonic-clonic seizures in the United States. The study included Screening, Titration (≤ 13 weeks), Maintenance (39 weeks), and Follow-up (4 weeks) Periods. During Titration, perampanel was initiated at 2 mg/day and up-titrated to 4 mg/day at Week 3...
May 10, 2024: Journal of Neurology
#23
REVIEW
Elisabeth M W Kooi, Jonathan P Mintzer, Christopher J Rhee, Ebru Ergenekon, Christoph E Schwarz, Gerhard Pichler, Willem P de Boode
In this narrative review, we summarize the current knowledge and applications of somatic near-infrared spectroscopy (NIRS), with a focus on intestinal, renal, limb, and multi-site applications in neonates. Assessing somatic oxygenation at various body locations in neonates may aid in the understanding of underlying pathophysiology of organ injury. Considering cerebral autoregulation may be active to protect the brain during systemic circulatory failure, peripheral somatic oxygenation may potentially provide an early indication of neonatal cardiovascular failure and ultimate hypoxemic injury to vital organs including the brain...
May 10, 2024: Pediatric Research
#24
JOURNAL ARTICLE
Charlotte Myers, Kathleen Bennett, Caitriona Cahir
BACKGROUND: Since the onset of the pandemic, breast cancer (BC) services have been disrupted in most countries. The purpose of this qualitative study is to explore the unmet needs, patient-priorities, and recommendations for improving BC healthcare post-pandemic for women with BC and to understand how they may vary based on social determinants of health (SDH), in particular socio-economic status (SES). METHODS: Thirty-seven women, who were purposively sampled based on SDH and previously interviewed about the impact of COVID-19 on BC, were invited to take part in follow-up semi-structured qualitative interviews in early 2023...
May 10, 2024: Supportive Care in Cancer
#25
JOURNAL ARTICLE
Stine Yde Nielsen, Elke Hoffmann-Lücke, Tine Brink Henriksen, Camilla Mirian Hartvigsen, Rikke Bek Helmig, Mohammed Rohi Khalil, Jens Kjølseth Møller, Lars Henning Pedersen, May Murra, Eva Greibe
OBJECTIVE: Timing of administration of antibiotics and concentrations in maternal blood and the umbilical cord blood are important prerequisites for optimal intrapartum antibiotic prophylaxis (IAP) of neonatal early-onset group B streptococcus (GBS) disease. This cohort study aimed to explore penicillin concentrations in mothers and infants at birth in relation to time elapsed from administration to delivery and to the minimal inhibitory concentration (MIC) for GBS. MAIN OUTCOME MEASURES: Penicillin G concentrations in maternal and umbilical cord blood in relation to time and dose from administration to time of delivery...
May 10, 2024: Archives of Disease in Childhood. Fetal and Neonatal Edition
#26
JOURNAL ARTICLE
Corinna Cozzitorto, Zoe Peltz, Lourdes M Flores, Luca Della Santina, Mao Mao, Douglas B Gould
The periocular mesenchyme (POM) is a transient migratory embryonic tissue derived from neural crest cells (NCCs) and paraxial mesoderm that gives rise to most of the structures in front of the eye. Morphogenetic defects of these structures can impair aqueous humor outflow, leading to elevated intraocular pressure and glaucoma. Mutations in collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) cause Gould syndrome - a multisystem disorder often characterized by variable cerebrovascular, ocular, renal, and neuromuscular manifestations...
May 8, 2024: Cells & development
#27
Carolina Dos Reis Ferreira, Vítor Martinho da Silva Fernandes, Sandra Cristina Ribeiro Tafulo, Ana Cerqueira, Ana Cristina Braga Rocha, Ana Teresa Pires Morais Nunes, Inês Passos Castro Neto Ferreira, Maria Joana Cunha Santos, Ana Teresa Marques Teixeira Pinho, Isabel Cristina Tavares, Maria Manuela Brito Bustorff Guerra, Susana Maria Moreira Sampaio Norton
INTRODUCTION: Antibody-mediated rejection (AMR) is the most common cause of immune-mediated allograft failure after kidney transplant and impacts allograft survival. Previous sensitization is a major risk factor for development of donor specific antibodies (DSA). AMR can have a wide range of clinical features such as impaired kidney function, proteinuria/hypertension or can be subclinical. HLA molecules have specific regions of antigens binding antibodies called epitopes and eplets are considered essential components responsible for immune recognition...
May 8, 2024: Transplant Immunology
#28
JOURNAL ARTICLE
Robin B Mendelsohn, Anne I Hahn, Randze Lerie Palmaira, Asha R Saxena, Pavan Kedar Mukthinuthalapati, Mark A Schattner, Arnold J Markowitz, Emmy Ludwig, Pari Shah, Delia Calo, Hans Gerdes, Rona Yaeger, Zsofia Stadler, Ann G Zauber, Andrea Cercek
BACKGROUND: Early-onset colorectal cancer (EO-CRC), diagnosed before age 50, is rising in incidence worldwide. Although post-surgical colonoscopy surveillance strategies exist, appropriate intervals in EO-CRC remain elusive, as long-term surveillance outcomes remain scant. We sought to compare findings of surveillance colonoscopies of EO-CRC to average onset colorectal cancer (AO-CRC) patients to help define surveillance outcomes in these groups. METHODS: Single institution retrospective chart review identified EO-CRC and AO-CRC patients with colonoscopy and no evidence of disease...
May 8, 2024: Clinical Gastroenterology and Hepatology
#29
JOURNAL ARTICLE
Wenzhe Sun, Zhaoxia Yang, Yanyan Wang, Jinfeng Miao, Chensheng Pan, Guo Li, Wenwen Liang, Xin Zhao, Yan Lan, Xiuli Qiu, Hao Wang, Man Chen, Yuan Yang
BACKGROUND: Understanding the association of peripheral inflammation and post-stroke depressive symptomology (PSDS) might provide further insights into the complex etiological mechanism of organic depression. However, studies focusing on the longitudinal patterns of PSDS were limited and it remained unclear whether peripheral inflammation influences the occurrence and development of PSDS. METHODS: A total of 427 prospectively enrolled and followed ischemic stroke patients were included in the analytical sample...
May 8, 2024: Journal of Affective Disorders
#30
JOURNAL ARTICLE
Malo Mofakhami, Emilie Counil, Ariane Pailhé
OBJECTIVE: Telework was massively adopted during the COVID-19 crisis. Related changes in working conditions may have affected women's and men's health differently due to the gendered division of work. Our study aimed to assess the gendered association of telework with physical and mental health outcomes one year after the onset of the pandemic and to determine whether the pathways of working conditions underlying these associations are gender-related. METHODS: We compared pre-pandemic and Covid-crisis work contexts using a large representative sample of French employees surveyed in early 2021...
April 28, 2024: Social Science & Medicine
#31
JOURNAL ARTICLE
Karl Winkler, Cornelia Lorey, Christine Contini, Vivian Augustinski, Gerhard Pütz, Elvira Röthele, Alexander Benner, Hans Fuchs, Ulrich Pecks, Filiz Markfeld-Erol, Mirjam Kunze
OBJECTIVES: Preeclampsia (PE) is a major cause of maternal and fetal mortality, and preterm birth. Previous studies indicate that lipid-apheresis may prolong pregnancy, namely heparin-mediated extracorporeal LDL-precipitation (HELP)- and dextran sulfate cellulose (DSC)-apheresis. We now report on double membrane plasmapheresis (DFPP) in early-onset preeclampsia (eoPE). STUDY DESIGN: Open pilot study assessing the prolongation of pregnancy in PE by lipoprotein-apheresis (DRKS00004527)...
May 9, 2024: Pregnancy Hypertension
#32
JOURNAL ARTICLE
Carly Ching, Muhammad H Zaman, Azra Parveen, Faisal Sultan, Summiya Nizamuddin
INTRODUCTION: Pakistan has been experiencing an extensively drug-resistant (XDR) outbreak of typhoid for some years. We sought to evaluate how the COVID-19 pandemic impacted typhoid epidemiology in Pakistan, from the beginning of the pandemic in 2020 through the end of 2022, and the reduction of COVID-19 cases. METHODOLOGY: We compared national public COVID-19 data with retrospectively obtained patient data of confirmed S. Typhi isolates between January 2019 and December 2022 from Shaukat Khanum Memorial Cancer Hospital and Research Centre and the hospital's extended network of laboratory collection centers across Pakistan...
April 30, 2024: Journal of Infection in Developing Countries
#33
JOURNAL ARTICLE
Marjolijn S W Quaak, Michiel S J S Buijze, Virginie J M Verhoeven, Clementien Vermont, Emmeline P Buddingh, Maud Heredia, Janneke N Samsom, Maarten J Titulaer, Annemarie M van Rossum, Sylvia Kamphuis, Rinze F Neuteboom
OBJECTIVES: We report on the therapeutic management of early-onset severe neurologic symptoms in cytotoxic T lymphocyte antigen-4 haploinsufficiency (CTLA-4h) and the presence of antibodies to the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) as an important finding. METHODS: This is a case report from a Dutch academic hospital. Repeated clinical examinations, repeated brain MRI and extended diagnostics on serum and CSF were performed...
July 2024: Neurology® Neuroimmunology & Neuroinflammation
#34
JOURNAL ARTICLE
Pablo Mesa-Del-Castillo, Inés Yago Ugarte, J M Bolarín, David Martínez, Berta López Montesinos, Honorio Barranco González, Inmaculada Calvo Penadés, Lucia Lacruz Pérez, Daniel Clemente, Juan Carlos Robledillo, Isabel Valls Ferrán, Beatriz Bravo Mancheño, Marina Rubio Plats, Laura Martín Pedraz, Carmen Alba Linero, Belén Sevilla-Pérez, J L García-Serrano, Maria Concepcion Mir-Perelló, Noelia Druetta, Alex Souto, Fernando Lopez-Lopez, Cristina Zarallo-Reales, María Jerez Fidalgo, Jorge Solana Fajardo, Natalia Palmou Fontana, Rosalia Demetrio Pablo, Mari Carmen Pinedo, Alex Fonollosa, Vega Jovani Casano, Jose Juan Mondejar García, Anahy Brandy, Alba García López, M Esteban-Ortega, Teresa Reinoso, Joan Calzada-Hernández, Ana Llorca Cardeñosa, César Gavilán Martín, Encarna Mengual Verdú, Mari Paz Martínez Vidal, Neus Quilis Martí, M C Alvarado, Jaime De Inocencio, Beatriz Alonso-Martín, Sheila Recuero-Diaz, Ester Carreño, Juan Carlos Nieto González, Lucia Ibares, Jose Rosas Gómez de Salazar, Juan Luis Sánchez Sevila
OBJECTIVE: To characterize and describe clinical experience with childhood-onset non-infectious uveitis. STUDY DESIGN: A multicenter retrospective multidisciplinary national web-based registry of 507 patients from 21 hospitals was analyzed. Cases were grouped as immune disease-associated (IMDu), idiopathic (IDIu) or ophthalmologically distinct. Characteristics of juvenile idiopathic arthritis-associated (non-HLA-B27-related) uveitis (JIAu), IDIu, and pars planitis (PP) were compared...
May 10, 2024: Ocular Immunology and Inflammation
#35
JOURNAL ARTICLE
Caroline Gray, Barbara Lerner, Jacqueline Egelfeld, Jada Robinson, Tracy Urech, Anita Vashi
GOAL: Growing numbers of hospitals and payers are using call centers to answer patients' clinical and administrative questions, schedule appointments, address billing issues, and offer supplementary care during public health emergencies and national disasters. In 2020, the Veterans Health Administration (VA) implemented VA Health Connect, an enterprise-wide initiative to modernize call centers. VA Health Connect is designed to improve the care experience with the convenience, flexibility, and simplicity of a single toll-free number connected to a range of 24/7 virtual services...
May 2024: Journal of Healthcare Management / American College of Healthcare Executives
#36
JOURNAL ARTICLE
Zhongli Sun, Lilin Deng, Zhoujie Xu, Kun Yang, Penglong Yu
BACKGROUND: Modern medicine has no cure for the xerostomia caused by the early onset of Sjögren's syndrome. Mume Fructus is a common Chinese herbal medicine used to relieve xerostomia. However, the molecular mechanisms of the effects of Mume Fructus are unknown. In this study, network pharmacology and molecular docking were used to investigate the mechanisms of action of Mume Fructus on Sjögren's syndrome. MATERIALS AND METHOD: The Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform database was used to identify the active components and targets of Mume Fructus, and the UniProt database was used to identify the genes encoding these targets...
May 10, 2024: Medicine (Baltimore)
#37
REVIEW
Alexandra M R McLaren, Michael D Kawaja
Alzheimer's disease is the most common cause of dementia, and it is one of the leading causes of death globally. Identification and validation of biomarkers that herald the onset and progression of Alzheimer's disease is of paramount importance for early reliable diagnosis and effective pharmacological therapy commencement. A substantial body of evidence has emerged demonstrating that olfactory dysfunction is a preclinical symptom of neurodegenerative diseases including Alzheimer's disease. While a correlation between olfactory dysfunction and Alzheimer's disease onset and progression in humans exists, the mechanism underlying this relationship remains unknown...
May 10, 2024: Journal of Alzheimer's Disease: JAD
#38
REVIEW
Cathrine E Gjerulfsen, Ilona Krey, Chiara Klöckner, Guido Rubboli, Johannes R Lemke, Rikke S Møller
N-methyl-D-aspartate receptors (NMDAR) are ligand-gated ion channels mediating excitatory neurotransmission and are important for normal brain development, cognitive abilities, and motor functions. Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-aspartate (GRIN) genes (GRIN1, GRIN2A-D) encoding NMDAR subunits have been associated with a wide spectrum of neurodevelopmental disorders and epilepsies ranging from treatable focal epilepsies to devastating early-onset developmental and epileptic encephalopathies...
2024: Methods in Molecular Biology
#39
REVIEW
Mie Cocquyt, Timi Claeys, Anselme Derese, Stefaan Six, Johan Bilsen
BACKGROUND: The development of communication, speech and language follows three stages (development of the parent-child relationship, interactions and actual speech and language acquisition). Children born with cleft lip and/or palate are at increased risk of communicative problems while parents may be going through an emotionally difficult time. Early parent-implemented logopaedic intervention that supports both parents and child is important. Three systematic reviews have examined the effects of early speech and language interventions, but not their structure and content...
May 10, 2024: International Journal of Language & Communication Disorders
#40
JOURNAL ARTICLE
So-Ryoung Lee, Eue-Keun Choi, Seung-Woo Lee, Kyung-Do Han, Seil Oh, Gregory Y H Lip
BACKGROUND: Although early rhythm control (ERC) in patients with atrial fibrillation (AF) reduces the risk of stroke, there is no evidence thus far on whether ERC reduces the risk of developing dementia in patients with AF and prior stroke. OBJECTIVES: This study sought to evaluate whether ERC reduces the risk of developing dementia in patients with new-onset AF and prior stroke. METHODS: Using the Korean nationwide claims database, we identified patients with new-onset AF and prior stroke between 2010 and 2016...
April 18, 2024: JACC. Clinical Electrophysiology
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
