Results 111 to 120 of about 359,449 (281)
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano +28 morewiley +1 more sourceParent–infant vocalisations at 12 months predict psychopathology at 7 years [PDF]
, 2013 This study investigated the utility of adult and infant vocalisation in the prediction of child psychopathology. Families were sampled from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort.Gillberg, Christopher, Gillberg, C., Markwick, H, Johnson, P.C.D., Golding, J., Golding , Jean, Puckering, C., Gillberg, C, Johnson, Paul, Marwick, H., Allely, Clare Sarah, Wilson, P, Doolin, Orla, Allely, C.S., Marwick, Helen Margaret, Purves, D., Allely, CS, Wilson, P., Johnson, PC, Golding, J, Wilson, Philip, Allely, C. S., Doolin, O., McConnachie, A., Johnson, P., McConnachie, A, Golding, Jean, Doolin, O, Purves, D, McConnachie, Alex, Johnson, P, Puckering, C, Purves, David, Puckering, Christine, Marwick, H +34 morecore +1 more sourceGuidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency
Frontiers in Pediatrics17β-hydroxysteroid dehydrogenase type 3 deficiency is a 46,XY difference of sex development (DSD) that may present in childhood with inguinal testes or at puberty following virilization. We present four individuals, assigned female at birth, to highlight Lissa X. Yu, Jodie Johnson, Christine M. Pennesi, Christine M. Pennesi, Michelle M. Ernst, Michelle M. Ernst, Andrew Strine, Andrew Strine, Armand H. Matheny Antommaria, Armand H. Matheny Antommaria, Robert J. Hopkin, Robert J. Hopkin, David E. Sandberg, Behzad Khorashad, Lauren Mohnach, Amer Heider, Meilan M. Rutter, Meilan M. Rutter +17 moredoaj +1 more sourceParamagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi +17 morewiley +1 more sourceCase Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
, 2020 Hypospadias is a congenital defect in which the opening of the urethra is located on the ventral side of the penis proximal to the tip of the glans penis. The cause of hypospadias is still not clear and believed to have several factors.Setiawan, Androniko, ., Andrian, Tanojo, Tjahjo Djojo, Yudiwati, Rina +3 morecore Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods
Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia +8 morewiley +1 more sourceSex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin +5 morewiley +1 more sourceOnasemnogene 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 morewiley +1 more sourceA Rare Case with Sex Developmental Disorder
مجله دانشکده پزشکی اصفهان, 2010 Background:
Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia.Elham Hashemi Dehkordi, Mehdi Salek, Mahin Hashemipour, Mohammad Hassan Moaddab +3 moredoaj