scholarly journals Szemfenéki angioid csíkok szisztémás betegségekben

2019 ◽  
Vol 160 (25) ◽  
pp. 994-1000
Author(s):  
Dorottya Kriskó ◽  
Andrea Popper-Sachetti ◽  
Ágnes Sallai ◽  
Gábor Sándor ◽  
Zoltán Zsolt Nagy ◽  
...  

Abstract: Angioid streaks are defined as the special morphological alteration of the fundus; the most common clinical manifestations are irregular, reddish brownish stripes around the optic nerve head or on the posterior pole. On the basis of histological examination, the cause of this phenomenon is the breaks and continuity deficiencies in the thin layer of Bruch membrane caused by the degeneration of elastic fibers. The aim of this study is to present the ocular complication of this rare entity through the description of three cases, and to draw attention to systemic diseases in the background. In our first and third cases, pseudoxanthoma elasticum (Grönblad–Strandberg syndrome) was in the background, while in our second case, hematological disease was confirmed. In our first and second cases, the ocular complication was the choroidal neovascularization, which we treated with intravitreal anti-VEGF injection. In our third case, the choroidal rupture was the ocular complication, caused by trauma. Angioid streaks on the fundus may be sub-phenomena of systemic diseases, the detection, differential diagnosis and treatment require interdisciplinary collaboration between associate physicians. Orv Hetil. 2019; 160(25): 994–1000.

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 271
Author(s):  
Saverio Capodiferro ◽  
Luisa Limongelli ◽  
Gianfranco Favia

Many systemic (infective, genetic, autoimmune, neoplastic) diseases may involve the oral cavity and, more generally, the soft and hard tissues of the head and neck as primary or secondary localization. Primary onset in the oral cavity of both pediatric and adult diseases usually represents a true challenge for clinicians; their precocious detection is often difficult and requires a wide knowledge but surely results in the early diagnosis and therapy onset with an overall better prognosis and clinical outcomes. In the current paper, as for the topic of the current Special Issue, the authors present an overview on the most frequent clinical manifestations at the oral and maxillo-facial district of systemic disease.


2020 ◽  
Vol 22 (1) ◽  
pp. 278
Author(s):  
Jianjian Sun ◽  
Peilu She ◽  
Xu Liu ◽  
Bangjun Gao ◽  
Daqin Jin ◽  
...  

Pseudoxanthoma elasticum (PXE), caused by ABCC6/MRP6 mutation, is a heritable multisystem disorder in humans. The progressive clinical manifestations of PXE are accompanied by ectopic mineralization in various connective tissues. However, the pathomechanisms underlying the PXE multisystem disorder remains obscure, and effective treatment is currently available. In this study, we generated zebrafish abcc6a mutants using the transcription activator-like effector nuclease (TALEN) technique. In young adult zebrafish, abcc6a is expressed in the eyes, heart, intestine, and other tissues. abcc6a mutants exhibit extensive calcification in the ocular sclera and Bruch’s membrane, recapitulating part of the PXE manifestations. Mutations in abcc6a upregulate extracellular matrix (ECM) genes, leading to fibrotic heart with reduced cardiomyocyte number. We found that abcc6a mutation reduced levels of both vitamin K and pyrophosphate (PPi) in the serum and diverse tissues. Vitamin K administration increased the gamma-glutamyl carboxylated form of matrix gla protein (cMGP), alleviating ectopic calcification and fibrosis in vertebrae, eyes, and hearts. Our findings contribute to a comprehensive understanding of PXE pathophysiology from zebrafish models.


1991 ◽  
Vol 112 (2) ◽  
pp. 166-170 ◽  
Author(s):  
Kate Coleman ◽  
Monique Hope Ross ◽  
Mary Mc Cabe ◽  
Rosemary Coleman ◽  
David Mooney

2015 ◽  
Vol 4 (3) ◽  
pp. 113-122 ◽  
Author(s):  
Barbara Marconi ◽  
Ivan Bobyr ◽  
Anna Campanati ◽  
Elisa Molinelli ◽  
Veronica Consales ◽  
...  

2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Satoshi Katagiri ◽  
Yuya Negishi ◽  
Kei Mizobuchi ◽  
Mitsuyoshi Urashima ◽  
Tadashi Nakano ◽  
...  

Purpose. To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). Patients and Methods. This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. Results. Eight ABCC6 variants were identified as candidate disease-causing variants. These eight variants included five known variants (p.Q378X, p.R419Q, p.V848CfsX83, p.R1114C, and p.R1357W), one previously reported variant (p.N428S) of unknown significance, and two novel variants (c.1939C>T [p.H647Y] and c.3374C>T [p.S1125F]); the three latter variants were determined to be variants of significance. The following four variants were frequently identified: p.V848CfsX83 (14/40 alleles, 35.0%), p.Q378X (7/40 alleles, 17.5%), p.R1357W (6/40 alleles, 15.0%), and p.R419Q (4/40 alleles, 10.0%). The ABCC6 variants were identified in compound heterozygous or homozygous states in 13 of 18 probands. Two families showed a pseudodominant inheritance pattern. Pseudoxanthoma elasticum was seen in 15 of 17 patients (88.2%) who underwent dermatological examination. Conclusions. We identified disease-causing ABCC6 variants that were in homozygous or compound heterozygous states in 13 of 18 families (72.2%). Our results indicated that ABCC6 variants play a significant role in patients with AS in the Japanese population.


1998 ◽  
Vol 4 (1_suppl) ◽  
pp. 183-186
Author(s):  
T. Yokouchi ◽  
S. Iwabuchi ◽  
A. Tomiyama ◽  
H. Samejima ◽  
K. Takahashi ◽  
...  

We performed balloon dilatation in the carotid artery of WHHL rabbits and examined subsequent morphological alteration over time. The balloon was inserted as far as the carotid bifurcation and observations were made on the morphological alteration after dilatation in the atherosclerotic intimal thickening from immediately after balloon dilatation over a period of ten months. Immediately after balloon dilatation, endothelial cells came of circularly and stretching, fragmentation off elastic fibers and coming off of smooth muscle cells of the media were confirmed. No change in the degree of thickening after dilatation was seen in the atherosclerotic intimal thickening of the carotid bifurcation. Three weeks later, endothelium covering except some parts, circular neointima and fibrosis of the media were observed; foamy cells had accumulated in the upper layer of the atherosclerotic intimal thickening, and that region was not yet covered with endothelial cells. The progress of fibrous intimal thickening so as to keep the lumen smooth was seen up to six months later, but foamy cells were not found in the neointima.


2010 ◽  
Vol 88 ◽  
pp. 0-0
Author(s):  
J DE ZAEYTIJD ◽  
OM VANAKKER ◽  
PJ COUCKE ◽  
A DE PAEPE ◽  
BP LEROY

2018 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Bruno Fortaleza de Aquino Ferreira ◽  
Rony Carlos Preti ◽  
Marina Brandão Schmidt ◽  
Leandro Cabral Zacharias ◽  
Walter Yukihiko Takahashi ◽  
...  

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