Results 181 to 190 of about 1,024,120 (317)

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Sex‐Stratified Association of Regional Dopamine Transporter Binding With Disease Progression in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe, Keizo Sugaya, Kentaro Hayashi, Keiko Hino, Yasuhiro Nakata, Kota Bokuda, Toshio Shimizu, Kazushi Takahashi   +7 more
wiley   +1 more source

A unilateral presentation of papillary renal cell carcinoma in a pediatric patient with tuberous sclerosis complex: A rare case report. [PDF]

Urol Case Rep
Budairy F, Almaghoush R, Alsadi MO, Tanous F, Abdelrahim J, Almoarawi A, Salloum Q, Mouhamad M.   +7 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Extrapulmonary Comparisons Between Mycobacterium Tuberculosis and Non-Tuberculous Mycobacteria: From Manifestations and Diagnosis to Treatment

Infection and Drug Resistance
Qi Dong,1 Miaoran Wang,1 Zhaohua Wang,1,2 Jie Shi,1,3 Jianping Xie,4 Xiaorui Li,5 Chang Liu,6 Yu Chen,7 Shu Guo1 1Department of Plastic Surgery, The First Hospital of China Medical University, Shenyang, 110000, People’s Republic of China; 2Department of ...
Dong Q, Wang M, Wang Z, Shi J, Xie J, Li X, Liu C, Chen Y, Guo S   +8 more
doaj  

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Contemporary Description of Clinical Characteristics and Outcomes in Patients with Hereditary ATTR Amyloidosis: Results from the Multicountry OverTTuRe Study. [PDF]

Cardiol Ther
Alexander KM, Kohsaka S, Poulsen SH, Terkelsen AJ, Smith JG, Sundström J, Wright J, Järbrink K, Bhimjiyani AG, Davis L, Matsue Y, Anderson LJ, Pilebro B.   +12 more
europepmc   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

Concurrent Central and Autonomic Nervous System Involvement in Varicella-Zoster Virus Infection in an Immunocompetent Patient: A Case-Based Mechanistic Analysis. [PDF]

Infect Dis Rep
Pyatt J, Umaña Mejía CA, Cruz J, Baires F, Hoffman H, Cordero Guerra J, Sierra-Hoffman M, Hesse H, Madril AC.   +8 more
europepmc   +1 more source

Cutaneous manifestations of sarcoidosis

Indian Journal of Dermatology, 2012
Alka Dogra, Sukhjot Kaur
openaire   +3 more sources