Results 61 to 70 of about 280,708 (291)

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

Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]

, 2013
Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst, Haberl, Annette Elisabeth, Herrmann, Eva, Louwen, Frank, Reitter, Anke, Schlößer, Rolf Lambert, Stücker, Anja-Undine   +6 more
core   +2 more sources

Risk factors, predictive markers and prevention strategies for intrauterine fetal death. An integrative review [PDF]

, 2020
According to World Health Organization (WHO), fetal death is defined as the death of the fetus prior to its complete expulsion, independent of the duration of pregnancy, thus only ascribing the term stillbirth to fetal deaths in the case of pregnancies ...
Andronache, Liliana Florina, Bohiltea, Roxana, Cavinder, Christina M., Cirstoiu, Monica Mihaela, Ducu, Ionită, Paunica, Ioana, Turcan, Natalia   +6 more
core   +2 more sources

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Accepted Article.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among long‐term HCQ users with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain OCT (SD‐OCT) for screening. Methods A systematic search of PubMed, Scopus,
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Chan, JK, Howe, SJ, McKay, TR, Rahim, AA, Waddington, SN, Ward, NJ   +6 more
core   +1 more source

Microfluidic Platform for Multiparametric Profiling of Fibrin Permeability, Fibrinolysis, and Cell Invasion

Advanced Functional Materials, EarlyView.
This paper introduces a single‐channel H‐junction microfluidic assay that profiles fibrin's evolving function in repair and thrombosis by measuring, in one ∼3 µL gel, permeability, fibrinolysis kinetics, fibroblast invasion, and clot extension in real time.
Halston Deal, Elizabeth M. Byrnes, Sanika Pandit, Halle J. Cantor, Muskan Aslam, Stacy Ban, Megan Palmisano, Rosemary Bayless, Ashley C. Brown, Michael Daniele   +9 more
wiley   +1 more source

Neonatal screening [PDF]

Journal of Tropical Pediatrics, 2014
Seema Kapoor, Manisha Goyal
openaire   +3 more sources

Maternal pre-pregnancy and prenatal penicillin, neonatal inflammation and growth factors are associated to ADHD in the offspring

Brain, Behavior, & Immunity - Health
Background: The etiology for Attention Deficit Hyperactivity Disorder (ADHD) is generally unknown, but both genetics, biology and environment have been shown to increase the risk.
Solveig Holmgaard, Pia Kiilerich, Nis Borbye-Lorenzen, Kristin Skogstrand   +3 more
doaj   +1 more source

Genetics of congenital hypothyroidism: Modern concepts

Pediatric Investigation, 2022
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one of the most common preventable causes of intellectual disability in the world.
Athanasia Stoupa, Dulanjalee Kariyawasam, Michel Polak, Aurore Carré   +3 more
doaj   +1 more source

Assessment of the incidence of sensorineural hearing loss among infants admitted to neonatal intensive care unit in health centers of Golestan University of Medical Sciences, Iran [PDF]

, 2014
Materials and methods: In this prospective cohort study, 870 neonates were recruited by nonrandom sampling method. After filling in the demographic and clinical check lists, automated auditory brainstem response (AABR) was performed for neonates at the ...
Alaee, E., Fouladinejad, M., Sirati, M.
core