Results 111 to 120 of about 3,137,982 (258)

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

Multiple Adult-Onset Xanthogranuloma: A Case Report

Siriraj Medical Journal, 2020
Multiple adult-onset xanthogranuloma (AXG) is an unusual presentation of non-Langerhans cell histiocytoses. We have described the case of a 79-year-old patient who presented with the recent eruption of multiple cutaneous nodules over the neck, trunk and ...
Nicha Keoprasom, Pranee Kasemsarn
doaj  

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

New-onset egg allergy in an adult: A case report

Frontiers in Allergy
Most adult cases of hen's egg allergy are carried over from childhood, and new-onset adult cases are rare. Such cases may result from cross-reactivity or sensitization by inhalation.
Michimasa Fujiwara, Takashi Kimura, Junya Ohira, Motohiro Inotani, Tomoko Sakane, Mizue Iwase, Sadanori Yamashita, Tooru Araki   +7 more
doaj   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Teaching adult education history in a time of uncertainty and hope [PDF]

, 2010
Adult educations continuing purpose has been questioned by writers for over twenty years and today the re-organisation and closure of some University departments brings this issue to the fore. This paper takes up the theme of really useful knowledge in a
Brown, T
core  

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Related factors for kidney disease and high chronic kidney disease progression risk in adult-onset type 1 diabetes mellitus patients from China: a multi-center cross-sectional study

Renal Failure
Background/Aim Concerning the related factors for kidney disease and high chronic kidney disease (CKD) progression risk, there is still a lack of study in the adult-onset type 1 diabetes mellitus (T1DM) patients from China.Methods Four hundred and eighty-
Jun Jiang, Wenjuan Huang, Lei Lan, Xueying Zheng, Sihui Luo, Yu Ding, Jinhua Yan, Wei Ren, Kuanxiao Tang, Daizhi Yang   +9 more
doaj   +1 more source

Adult-onset type 1 diabetes: predictors of major cardiovascular events and mortality

Background and Aims The prognosis of adult-onset type 1 diabetes (T1D) and prognostic factors are sparsely investigated. This study assessed mortality, major adverse cardiovascular events (MACE), and prognostic factors in adult-onset ...
Tomas Andersson (574816), Thomas Nyström (2838080), Yuxia Wei (18690745), Tiinamaija Tuomi (12004), Sofia Carlsson (615710)   +4 more
core   +1 more source