Results 71 to 80 of about 3,144,487 (302)

Leber hereditary optic neuropathy (LHON) in a 6-year-old boy with a transient spinal cord lesion

The Turkish Journal of Pediatrics
Background. Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder that predominantly manifests as bilateral, painless vision loss in young males.
Anıl Gök, Gökçe Cırdı, Adnan Deniz, Ayfer Sakarya Güneş, Leman Tekin Orgun, Bülent Kara   +5 more
doaj   +1 more source

Hereditary eye diseases by dogs

, 2012
The aim of the bachelor thesis is to create comprehensive literature review about dog?s eyes inherited diseases. The thesis covers themes such as the diseases symptoms, cause of the diseases and diseases transmittion to the parent?s offspring.
KOPTOVÁ, Marcela
core  

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

Donor-transmitted melanoma after limbal stem cell transplantation

Avicenna Journal of Medicine, 2017
Limbal Stem Cells are a unique cell line located at the corneal limbus. They are responsible for regenerating and restoring corneal epithelial layers.
Anas Alsara, Muhammad Rafi
doaj   +1 more source

Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors

, 2013
D Gareth R Evans,1 Sarah Louise Ingham21Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St Mary's Hospital, Manchester, UK; 2Centre for Health Informatics, Institute of Population Health, The ...
Ingham SL, Evans DGR
core  

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Study of hereditary non-syndromic ophthalmic pathology of child population of the Karachay-Cherkess Republic: features and structure of nosological spectrum [PDF]

Клиническая офтальмология, 2019
V.V. Kadyshev1, A.V. Marakhonov1, S.I. Kutsev1,2, R.A. Zinchenko1,3 1 Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow,  Russian Federation 2 Pirogov Russian National Research Medical University, Moscow ...
V.V. Kadyshev, A.V. Marakhonov, S.I. Kutsev, R.A. Zinchenko   +3 more
doaj  

The Gabriel-Roiter measure for representation-finite hereditary algebras [PDF]

, 2006
Chen B. The Gabriel-Roiter measure for representation-finite hereditary algebras.
Chen, Bo
core   +1 more source

Inebilizumab in AQP4‐Seropositive NMOSD: One‐Year Follow‐Up From a Multicenter, Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Real‐world evidence on inebilizumab among neuromyelitis optica spectrum disorder (NMOSD) patients is lacking. This study assessed inebilizumab among Chinese patients with aquaporin 4 autoantibody (AQP4‐IgG)‐seropositive NMOSD in a real‐world setting.
Mengcui Gui, Jiayang Zhan, Wei Li, Tao Jin, Dan He, Daishi Tian, Zhijun Li, Jing Lin, Yue Li, Hongyu Zhou, Bitao Bu   +10 more
wiley   +1 more source

Difficulties in differential diagnosis between the hereditary retinitis pigmentosa and “leopard skin” retinopathy

Klinika Oczna
The aim of the study is to present the diagnostic difficulties in differentiating the hereditary form of retinitis pigmentosa (RP) from “leopard skin” retinopathy on the example of a case report of a 34-year-old woman.
Izabella Karska-Basta, Jakub Jarczak, Michał Chrząszcz, Bożena Romanowska-Dixon, Dorota Pojda-Wilczek, Weronika Pociej-Marciak   +5 more
doaj   +1 more source