Results 111 to 120 of about 2,216,863 (314)

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. [PDF]

, 2019
BACKGROUND: Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling ...
Castiglia, Daniele, Conti, Claudio J., Del Rio, Marcela, Escamez, Maria Jose, Guerrero-Aspizua, Sara, Has, Cristina, Itin, Peter, Martin, Ludovic, Requena, Luis, Tadini, Gianluca, Uitto, Jouni, Vahidnezhad, Hassan, Yordanova, Ivelina, Youssefian, Leila, Zambruno, Giovanna   +14 more
core   +3 more sources

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Comparison of personality traits among patients with psoriasis, atopic dermatitis, and stress: a pilot study

, 2020
Background: Psoriasis and atopic dermatitis are chronic skin diseases that greatly affect the quality of life. Both diseases can be triggered or exacerbated by stress. Objective: We aimed to differentiate personality traits between patients with chronic
Grine, Lynda, Hofbauer, Günther F. L., Lambert, Jo, Lapeere, Hilde, Maes, Nele, Tochtermann, Giulia, Vervaet, Myriam   +6 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Research advances in the pathomechanisms and treatment of sensitive skin

Pifu-xingbing zhenliaoxue zazhi
Sensitive skin (SS) is a complex condition with multifactorial pathogenesis, including impairment of the skin barrier function, dysbiosis of the skin microbiome, abnormal cutaneous nervous and vascular response, and dysregulated immune and inflammatory ...
NOH Youngji, CAO Ting, YE Chengbin, ZOU Ying   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

UJI EFEKTIFITAS INFUS DAUN SIRIH (Piper betle L) TERHADAP PERTUMBUHAN Colletotrichum gloeosporioides SECARA IN VITRO [PDF]

, 2007
There are various disease attacking plant. According to the cause, plant disease divided into two kinds, biotic (parasite) and abiotic (non-parasite).
Ni’mah, Rizqotun
core  

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

Clinical experience of primary subcutaneous mycoses in Shanghai: a retrospective analysis

Frontiers in Cellular and Infection Microbiology
IntroductionPrimary subcutaneous mycoses are a heterogeneous group of fungal infections caused by pathogenic or opportunistic organisms. In recent years, cases have steadily increased in Shanghai, an area where the disease was previously uncommon.
Qian Yu, Lulu Li, Yuanyuan Wang, Zhiqin Gao, Siyu Liu, Jingwen Tan, Xiaoping Liu, Wei Li, Lianjuan Yang   +8 more
doaj   +1 more source