Results 251 to 260 of about 2,431,645 (337)

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Defining Success in the Delivery of Fertility-Related Care for Patients with Differences of Sex Development. [PDF]

Horm Res Paediatr
Streich-Tilles T, Morrison A, Schafer-Kalkhoff T, Gardner M, Suorsa-Johnson KI, Baskin A, Weidler EM, van Leeuwen K, Sandberg DE, Rutter MM.   +9 more
europepmc   +1 more source

Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley   +1 more source

Sex differences in the development of airway epithelial tolerance to naphthalene

, 2011
Katherine Sutherland, Patricia C. Edwards, Trenton J. Combs, Laura S. Van Winkle   +3 more
openalex   +2 more sources

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Microscopic testicular sperm extraction in 46, XY differences in sex development caused by 5-alpha reductase type 2 deficiency. [PDF]

Arch Endocrinol Metab
Cardoso JPG, Mendonça BB, Nahas WC, Cocuzza MAS.   +3 more
europepmc   +1 more source

Differences (Disorders) of Sex Development (DSD): The Quintessence of Perennial Controversies-IV: Genitoplasty for CAH- Management, Socio-cultural and Legal Issues

Minu Bajpai, Abhijat Sheth
openalex   +1 more source

Development of a Prediction Model for Progression Risk in High‐Grade Gliomas Based on Habitat Radiomics and Pathomics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the value of constructing models based on habitat radiomics and pathomics for predicting the risk of progression in high‐grade gliomas. Methods This study conducted a retrospective analysis of preoperative magnetic resonance (MR) images and pathological sections from 72 patients diagnosed with high‐grade gliomas (52 ...
Yuchen Zhu, Yuxi Gong, Weilin Xu, Xingjian Sun, Gefei Jiang, Lei Qiu, Kexin Shi, Mengxing Wu, Yinjiao Fei, Jinling Yuan, Jinyan Luo, Yurong Li, Yuandong Cao, Minhong Pan, Shu Zhou   +14 more
wiley   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman, Asako Takanohashi, Joshua Y. Joung, Geraldine W. Liu, Kaley Arnold, Amy Pizzino, Walter Faig, Sarah Woidill, Sona Narula, Adeline L. Vanderver   +9 more
wiley   +1 more source