Results 111 to 120 of about 51,591 (290)

A rare association between angioid streaks and pattern dystrophy. [PDF]

Arq Bras Oftalmol, 2023
Kitahara RB, Teixeira FHF, Santos FMD, Medina FMC, Motta MMDS.   +4 more
europepmc   +1 more source

Pigment Epithelial Pattern Dystrophy

Archives of Ophthalmology, 1982
The development of a retinal pigment epithelial dystrophy with a horseshoe pattern is described. In the same family, pigmentations resembling butterfly dystrophy, fundus pulverulentus, and reticular dystrophy were found. Since reticular dystrophy, macroreticular dystrophy, fundus pulverulentus, butterfly dystrophy, and pattern dystrophy lead to the ...
de Jong, P.T.V.M., Delleman, J.W.
openaire   +3 more sources

Visual function and CFH/ARMS2 risk genotypes in macular dystrophy due to maternally inherited diabetes and deafness

, 2013
Maternally inherited diabetes and deafness (MIDD) is an autosomal dominant inherited syndrome caused by the mitochondrial DNA (mtDNA) nucleotide mutation A3243G.
Morris, C. Phillip, Feigl, Beatrix
core   +1 more source

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Stargadt’s disease in two Nigerian siblings

International Medical Case Reports Journal, 2013
Tunji S Oluleye, Akinsola Sunday Aina, Tarela Frederick Sarimiye, Segun Isaac Olaniyan Retinal and Vitreous Unit, University College Hospital, Ibadan, Nigeria Abstract: Stargardt’s disease is an inherited macular dystrophy that is transmitted in an
Oluleye TS, Aina AS, Sarimiye TF, Olaniyan SI   +3 more
doaj  

Growth patterns in duchenne muscular dystrophy

One Health & Risk Management
Introduction. Duchenne muscular dystrophy (DMD) is a severe genetic disorder that is notable for its significant impact on growth patterns, presenting unique challenges in clinical management and treatment. Aim. To evaluate longitudinal growth patterns (
Iulia RODOMAN, Victoria SACARA, Ina PALII   +2 more
doaj   +1 more source

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

Arquivos de Neuro-Psiquiatria, 2014
Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function ...
Ana Cotta, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Júlia Filardi Paim, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier Neto, Reinaldo Issao Takata, Antonio Pedro Vargas   +10 more
doaj   +1 more source

ZBED6 Knockout Promotes Skeletal Muscle Development in Bama Pigs by Relieving Transcriptional Repression of CDKN1A

Animal Research and One Health, EarlyView.
Integrated transcriptomic and functional analyses identify CDKN1A as a direct target of ZBED6 in Bama pigs. ZBED6 knockout relieves transcriptional repression of CDKN1A, thereby promoting myogenic differentiation and skeletal muscle development.
Yitian Ma, Xiu Lin, Pengtao Yuan, Yabin Pu, Yuehui Ma, Zixiao Jiang, Lin Jiang, Chongyang Li, Dandan Wang   +8 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, Accepted Article.
Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz, Seza Ozen, Hacer N. Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet E. Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet O. Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]

, 2010
Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Paul S Sharp, Dominic J. Wells, Ke Liu, Susan C Brown, Sharp, P S, Dominic J Wells, Cirak, S., Sebahattin Cirak, Wells, DJ, Paul S. Sharp, Muntoni, F., Susan C. Brown, Wells, D J, Brockington, M., Cirak, S, Liu, K., Brockington, M, Torelli, S, Brown, SC, Sharp, PS, Muntoni, F, Brown, S C, Sharp, P.S., Torelli, S., Liu, K, Wells, D.J., Silvia Torelli, Brockington, M A, Francesco Muntoni, Martin Brockington, Brown, S.C.   +30 more
core   +1 more source