Results 91 to 100 of about 1,411,800 (309)

Ostensive signals support learning from novel attention cues during infancy [PDF]

, 2014
Social attention cues (e.g., head turning, gaze direction) highlight which events young infants should attend to in a busy environment and, recently, have been shown to shape infants' likelihood of learning about objects and events. Although studies have
Csibra, D'Entremont, Farroni, Honey, Kirkham, Leekham, Liljeholm, Marcus, Parise, Richardson, Senju, Thiessen, Wu, Wu, Yoon, Yurovsky   +15 more
core   +2 more sources

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Infants hospitalized for Bordetella pertussis infection commonly have respiratory viral coinfections [PDF]

, 2017
Background: Whether viral coinfections cause more severe disease than Bordetella pertussis (B. pertussis) alone remains unclear. We compared clinical disease severity and sought clinical and demographic differences between infants with B.
Agricola, Eleonora, Buttinelli, Gabriele, Campagna, Ilaria, Carsetti, R., Concato, C., DI MATTIA, Greta, Fedele, Giorgio, Ferretti, Beatrice, Frassanito, Antonella, Gesualdo, Francesco, Gonfiantini, Michaela Veronika, Marcellini, Valentina, Midulla, Fabio, Nenna, Raffaella, Nicolai, Ambra, Pandolfi, Elisabetta, Pierangeli, Alessandra, Russo, Luisa, Schiavoni, I., Stefanelli, P., Tozzi, A. E., Vennarucci, Valentina Spuri, Villani, Alberto   +22 more
core   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Dermatologic presentations of hyper IgE syndrome in pediatric patients

Allergy, Asthma & Clinical Immunology
Background Hyper-IgE Syndrome, also known as Job’s syndrome, is a rare primary immunodeficiency disorder characterized by recurrent infections and elevated levels of immunoglobulin E.
Mohammad Mahjoubi, Ronak Rashedi, Noosha Samieefar, Fahimeh Abdollahimajd, Nima Rezaei   +4 more
doaj   +1 more source

Persistent HPV Infection Among Women in Zhengzhou, China: A Prevalence Study

Zhongliu Fangzhi Yanjiu
ObjectiveTo analyze the status of persistent human papillomavirus (HPV) infection and the distribution of viral subtypes in the Zhengzhou region. MethodsClinical data of 55239 patients who underwent HPV-DNA genotyping tests from 2018 to 2024 were ...
Haixia DUAN, Jin QIAN, Yao ZHANG, Zhimin REN, Guohong ZHAO, Junyan HONG, Xinmin LI   +6 more
doaj   +1 more source

Prolonged duration of early antibiotic therapy in extremely premature infants. [PDF]

, 2019
BackgroundProlonged early antibiotics in extremely premature infants may have negative effects. We aimed to assess prevalence and outcomes of provision of prolonged early antibiotics to extremely premature infants in the absence of culture-confirmed ...
Chowdhury, Dhuly, Cotten, C Michael, Das, Abhik, Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network, Greenberg, Rachel G, Hansen, Nellie I, Higgins, Rosemary D, Mukhopadhyay, Sagori, Puopolo, Karen M, Smith, P Brian, Stoll, Barbara J, Sánchez, Pablo J   +11 more
core  

Severe pertussis infection in infants less than 6 months of age: clinical manifestations and molecular characterization [PDF]

, 2017
We conducted a study to determine the main traits of pertussis among unimmunized infants less than 6 months of age. From August 2012 to March 2015, 141 nasopharyngeal aspirates (NPAs) were collected from infants with respiratory symptoms attending 2
Buttinelli, Gabriele, Carsetti, Rita, Concato, Carlo, Di Mattia, Greta, Fedele, Giorgio, Gesualdo, Francesco, Midulla, Fabio, Nicolai, Ambra, Stefanelli, Paola, the Pertussis Study Group,, Tozzi, Alberto E., Vacca, Paola, Villani, Alberto   +12 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source