Results 41 to 50 of about 2,548,288 (258)

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

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

The effect of HIV status on perinatal outcome at Mowbray Maternity Hospital and referring MOUs [PDF]

, 2011
Includes bibliographical referencesBackground: 33,4 Million people were living with the Human Immune Deficiency virus by the end of 2009 with sub-Saharan Africa the most affected region.
Kennedy, Deon
core   +1 more source

Immediate Perinatal Outcome of Mothers with Maternal Near-Miss at Moi Teaching and Referral Hospital, Eldoret, Kenya [PDF]

, 2022
Objective: To compare the immediate perinatal outcome of females with maternal near-miss (MNM) morbidity and those without near-miss morbidity in Moi Teaching and Referral Hospital (MTRH), Eldoret, Kenya.
Winfred Mwangi, David Nding’ori, Pallavi Mishra, Jack Odunga   +3 more
core   +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

Existing maternal obesity guidelines may increase inequalities between ethnic groups: a national epidemiological study of 502,474 births in England [PDF]

, 2012
<p>Background: Asians are at increased risk of morbidity at a lower body mass index (BMI) than European Whites, particularly relating to metabolic risk. UK maternal obesity guidelines use general population BMI criteria to define obesity, which do
Wilkinson, J., Sattar, N, Sattar, N., Heslehurst Nicola, Rankin Judith, Wilkinson John, Wilkinson, J, Rankin, Judith, Heslehurst, N, Rajasingam, D, Sattar Naveed, Summerbell, C.D., Summerbell, Carolyn D., John Wilkinson, Daghni Rajasingam, Sattar, Naveed, Rajasingam, D., Judith Rankin, Heslehurst, N., Carolyn D Summerbell, Summerbell Carolyn D, Wilkinson, John, Naveed Sattar, Heslehurst, Nicola, Rajasingam, Daghni, Rankin, J., Rajasingam Daghni, Nicola Heslehurst, Summerbell, CD, Rankin, J   +29 more
core   +2 more sources

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Comparative Study of Feto-Maternal Outcome of Ante-natal Cases as per the Standard WHO Guidelines Vs Revised Antenatal Visit Schedule during Covid19 Pandemic

, 2023
Background: Good antenatal care helps a woman face labour in good health and optimum conditions. The National Institute for Health and Care Excellence (NICE) and WHO guidelines suggest 15 visits in the whole pregnancy.
Singh, Randeep, Bhardwaj, Bikram, Menon, Aruna, Prajapati, Vipin Kumar, Kathi, Apphia Saphir   +4 more
core  

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source