Results 51 to 60 of about 359,721 (246)

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

Unmasking a Hidden Threat: Prenatal Stress and its Link to Maternal and Fetal Health: A Cross-Sectional Study in Tertiary Care Hospital

Pakistan Journal of Medical Research
Background: Physical discomforts and other changes in everyday life can cause stress during pregnancy. Some types of stress may cause serious health problems, like high blood pressure, and lead to problems like preterm birth.
Imrana Saeed, Humaira Mehmood, Sana Bilal, Nimra Riaz, Maryam Abbas, Fatima Fuad Junaid   +5 more
doaj   +2 more sources

Comparison of minor head trauma management in the emergency departments of a United States and Italian Children’s hospital

Italian Journal of Pediatrics, 2019
Background Pediatric head trauma management varies between emergency departments globally. Here we aim to compare the pediatric minor head trauma management between a US and Italian hospital.
Brittany M. Stopa, Stefano Amoroso, Luca Ronfani, Elena Neri, Egidio Barbi, Lois K. Lee   +5 more
doaj   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Dyslipidemia in Pregnancy: A Systematic Review of Molecular Alterations and Clinical Implications

Biomedicines
Background: Dyslipidemia in pregnancy presents unique clinical challenges due to its effects on maternal and fetal health. This systematic review hypothesizes that molecular alterations in lipid metabolism during pregnancy contribute to adverse pregnancy
Agnesa Preda, Silviu-Daniel Preda, Maria Mota, Dominic Gabriel Iliescu, Lucian George Zorila, Alexandru Cristian Comanescu, Adina Mitrea, Diana Clenciu, Eugen Mota, Ionela Mihaela Vladu   +9 more
doaj   +1 more source

Maternal and neonatal outcomes of pregnant women diagnosed with covid-19 in Shahid Jalil and Imam Sajjad hospitals in Yasuj from April 2020 to July 2021 [PDF]

Armaghane Danesh Bimonthly Journal, 2023
Maternal and neonatal outcomes of pregnant women diagnosed with covid-19 in Shahid Jalil and Imam Sajjad hospitals in Yasuj from April 2020 to July 2021 Zahra Asadi Kalemeh1, Parvinsadat Eslamnik1*, Seyed Eisa Salehi Dehno 2 1Assistant Professor of ...
Parvinsadat Eslamnik, ZAHRA Asadi Kalemeh, Seyed Eisa Salehi Dehno   +2 more
doaj  

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

An evaluation of antenatal corticosteroid use and timing in a large US birth cohort 2017–2021

Pregnancy
Introduction There is a lack of published data on the contemporary use and timing of antenatal corticosteroids in the United States. Our primary objective was to address this gap using clinical data from a large US birth cohort.
Vivienne Souter, C. Andrew Combs, Ian Painter, Kristin Sitcov, Lisa Foglia, Sarah M. Edwards, Asma Khalil, Andreas Hoehn   +7 more
doaj   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source