Results 141 to 150 of about 990,174 (349)

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source

Criteria of Clinical Diagnostics and Choice of Treatment Strategy in Children with Disoders of Sexual Development [PDF]

Саратовский научно-медицинский журнал, 2010
The number of patients with disorders of sexual development (DSD) has increased in 3.54 times during the last three years. The aim is to define the structure of intersexual disorders in children from Saratov, criteria of gender assignment and surgical ...
N.V. Bolotova, D.A. Morozov, N.U. Raygorodskaya, D.A. Zharkov, M.M. Grigorjeva, E.N. Tsmokalyuk   +5 more
doaj  

STRATEGI COPING ORANGTUA YANG MEMPUNYAI ANAK DENGAN DISORDERS OF SEX DEVELOPMENT KROMOSOM SEKS MOSAIK

Jurnal Psikologi Undip, 2019
This study aims to explore coping strategies used by parents’ of children with mosaic sex chromosome Disorders of Sex Development (DSD). The study applied the sequential explanatory mixed-methods approach that collected quantitative data prior to ...
Iit Fitrianingrum, Annastasia Ediati, Sultana MH Faradz   +2 more
doaj   +1 more source

DISORDERS OF SEX DEVELOPMENT (DSD) [PDF]

, 2007
J.M. Wit, Michael B. Ranke, C.J.H. Kelnar   +2 more
openalex   +1 more source

Detail-oriented cognitive style and social communicative deficits, within and beyond the autism spectrum: independent traits that grow into developmental interdependence [PDF]

, 2013
At the heart of debates over underlying causes of autism is the "Kanner hypothesis" that autistic deficits in social reciprocity, and a cognitive/perceptual 'style' favouring detail-oriented cognition, co-vary in autistic individuals.
Austin, Baranek, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Baron-Cohen, Belmonte, Belmonte, Belmonte, Belmonte, Belmonte, Ben-Sasson, Benton, Best, Beuker, Bishop, Boomsma, Boyd, Boyd, Carroll, Charman, Charman, Chen, Chen, Constantino, Cuccaro, Dawson, Dworzynski, Eisenberg, Evans, Evers, Frazier, Frazier, Frith, Georgiades, Georgiades, Geschwind, Golan, Gotham, Gotham, Grove, Happé, Happé, Happé, Hoekstra, Honey, Hurst, Jarrold, Jeffrey M. Valla, Johnson, Johnson, Kamp-Becker, Kanner, Kern, Kloosterman, Kolevzon, Lam, Lau, Lord, Magyer, Mandy, Mandy, Matson, Matthew K. Belmonte, McGovern, Morgan, Ozonoff, Papageorgiou, Pellicano, Pellicano, Piven, Richler, Rogers, Ronald, Ronald, Rubenstein, Russell-Smith, Sacco, Silverman, Skuse, Smith, Snow, Spiker, Stewart, Szatmari, Szatmari, Tadevosyan-Leyfer, Trope, Turner, Valla, Van Lang, Voracek, Walter, Watson, Wimmer, Witelson, Witkin, Yoder   +105 more
core   +1 more source

Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour, Luigi M. Romito, Antonio E. Elia, Nico Golfré Andreasi, Roberto Eleopra, Alberto Mazzoni, Fabiana Colucci   +6 more
wiley   +1 more source

Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study

Endocrine Connections, 2018
Objective The knowledge about health status in adults with disorder of sex development (DSD) is scarce. Design and methods A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 ...
H. Falhammar, H. Claahsen-van der Grinten, N. Reisch, J. Słowikowska-Hilczer, A. Nordenström, R. Roehle, C. Bouvattier, B. Kreukels, B. Köhler   +8 more
semanticscholar   +1 more source

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen, Fabian Ott, Sebastian Loens, Gamze Kilic‐Berkmen, Ai Huey Tan, Shen‐Yang Lim, Ebba Lohmann, Kaja M. Schröder, Lea Ipsen, Lena A. Nothacker, Linn Welzel, Alexandra S. Rudnik, Frauke Hinrichs, Thorsten Odorfer, Kirsten E. Zeuner, Friederike Schumann, Andrea A. Kühn, Simone Zittel, Marius Moeller, Robert Pfister, Christoph Kamm, Anthony E. Lang, Yi Wen Tay, Ana Luísa de Almeida Marcelino, Marie Vidailhet, Emmanuel Roze, Joel S. Perlmutter, Jeanne S. Feuerstein, Victor S. C. Fung, Florence Chang, Richard L. Barbano, Steven Bellows, Aparna A. Wagle Shukla, Alberto J. Espay, Mark S. LeDoux, Brian D. Berman, Stephen Reich, Andres Deik, Andre Franke, Michael Wittig, Sören Franzenburg, Jens Volkmann, Norbert Brüggemann, H. A. Jinnah, Tobias Bäumer, Christine Klein, Hauke Busch, Katja Lohmann   +47 more
wiley   +1 more source

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: Sex chromosome mosaicism remains challenging in the study of disorders of sex development (DSD). Aneuploid cells in the developing gonad play a major role in sex determination. Therefore, it is necessary acknowledge their presence by different
Rosalba Sevilla-Montoya, Maria de Jesus Zavaleta-Abreu, Gloria Queipo, Silvia Sanchez, Sara Frias, Alberto Hidalgo-Bravo, Patricia Grether-González   +6 more
doaj  

Disorders of Sex Development/Intersex: Gaps in Psychosocial Care for Children

Pediatrics, 2018
* Abbreviation: DSD — : disorder and/or difference of sex development Access to psychosocial care is currently inadequate for patients and families affected by a disorder of sex development (DSD; some individuals prefer the terms “intersex” or ...
M. Ernst, L. Liao, Arlene B. Baratz, D. Sandberg   +3 more
semanticscholar   +1 more source