Results 51 to 60 of about 44,889 (298)

Orbital adipose tissue

Офтальмохирургия, 2016
We summarized the results of Russian and foreign researches elucidating embryogenesis, topography and anatomy of different orbital fat pads. It is interesting that adipose tissue from different surgical adipose spaces do not stem from the same germ ...
S. A. Borzenok, M. B. Gushchina, D. S. Afanasyeva, G. A. Shilkin   +3 more
doaj   +1 more source

The eye as a window to inborn errors of metabolism

, 2003
Ocular manifestations in inborn errors of metabolism occur in many diseases and may be associated with any part of all eye components. In a minority of diseases it is possible to attribute the eye symptoms to a single hereditary pathogenetic mechanism ...
Barth, P. G., Duran, M., Poll-The, B. T., Maillette de Buy Wenniger-Prick, L. J.   +3 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

A novel ADAMTSL4 compound heterozygous mutation in isolated ectopia lentis: a case report and review of the literature

Journal of Medical Case Reports, 2023
Background Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases.
Hengguang Wei, Xuyun Meng, Huali Qin, Xia Li   +3 more
doaj   +1 more source

Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito, Chiara Meneghini, Alice Galli, Luca Gallo, Pierfrancesco Mitrotti, Paola Dimartino, Marianna Inglese, Cinzia Zatti, Alessandro Lupini, Andrea Pilotto, Alessandro Padovani, Micol Avenali, Enza Maria Valente, Cristina Tassorelli, Silvia P. Caminiti   +14 more
wiley   +1 more source

Rationale and protocol paper for the Asia Pacific Network for inherited eye diseases [PDF]

, 2023
PURPOSE: There are major gaps in our knowledge of hereditary ocular conditions in the Asia-Pacific population, which comprises approximately 60% of the world's population.
Ghosh, Arkasubhra, Raman, Rajiv, Sasongko, Muhammad Bayu, Chen, Li Jia, Manurung, Florence, Pradhan, Eli, Lim, Amelia, Chan, Choi Mun M, Huang, Chu-Hsuan, Pisuchpen, Phattrawan, Simunovic, Matthew P, Wong, Wendy M, Poornachandra, B, Kim, Sang Jin, Sujirakul, Tharikarn, Tham, Yih Chung, Cheng, Ching-Yu, Fujinami, Kaoru, Sen, Parveen, Fong, Kenneth, Chen, Haoyu, Othman, Othmaliza, Kamalden, Ain Tengku, Chan, Hwei Wuen, Fenner, Beau J, Chen, Fred Kuanfu, Kang, Eugene Yu-Chuan, Lott, Pooi Wah Penny, Michaelides, Michel, Tan, Tien-En, Mohd Khialdin, Safinaz, Bastion, Mae-Lynn Catherine, Luu, Chi D, Chen, Ta-Ching, Su, Xinyi, Woo, Se Joon, Wang, Nan-Kai, Yang, Liping, Thapa, Raba, Jin, Zi-Bing, Rajkarnikar, Sthapit Purnima, Shen, Ren-Juan, Chia, Valen, Ngo, Wei Kiong, Sui, Ruifang, Ikeda, Hanako, Kumaramanickavel, Govindasamy, Adhikari, Srijana, Bhende, Muna, Ibañez, B Manuel Benjamin Iv, Zhao, Chen, Shunmugam, Manoharan, Li, Shiying, Arianti, Alia, Laude, Augustinus, Holder, Graham E, Mangunsong, Cosmos O, Singh, Mandeep, Leroy, Bart, Koh, Adrian, Surawatsatien, Nuntachai   +60 more
core  

Air Pollution and the Risk and Progression of Multiple Sclerosis: A Systematic Review and Meta‐Analysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose Air pollution has been linked to several neurological conditions, including stroke and neurodegenerative diseases. Evidence regarding its association with multiple sclerosis (MS) remains conflicting, limited by small sample sizes. Methods PubMed, Embase, Scopus, and Cochrane controlled register of trials (CENTRAL) were searched on ...
Ahmad A. Toubasi, Thuraya N. Al‐Sayegh
wiley   +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

Two detrimental mutations in cattle mitogenome indicate the presence of Leber's hereditary optic neuropathy [PDF]

Journal of Central European Agriculture, 2019
While mitochondriopathies, mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), are well documented in humans, single pathogenic mtDNA mutation or disorders are unknown in livestock populations.
Dinko Novosel, Vlatka Cubric-Curik, Mojca Simcic, Peter Dovc, Ino Curik   +4 more
doaj   +1 more source

Molecular Elucidation of Hereditary Eye Diseases: Pivotal Role of the Clinician

Ophthalmic Research, 2009
For the diagnosis and molecular elucidation of many hereditary eye diseases, the chromosomal localization of the respective gene defects has been instrumental. Given the rapid progress of the global efforts to sequence the entire human genome and in view of new molecular strategies and resources to identify disease genes, further progress in this field
openaire   +4 more sources