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      <title>Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort</title>
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      <abstractText>Background/Objectives: Cystoid macular lesion (CML) is a treatable cause of central vision loss in inherited retinal diseases (IRDs). We aimed to determine the frequency of CML in a large Hungarian IRD cohort and examine associations with causative genes. Methods: This longitudinal, retrospective, monocentric study included patients with genetically confirmed IRD identified from our database. Targeted next-generation sequencing (351-gene panel) and comprehensive ophthalmic evaluation were performed, including best-corrected visual acuity (BCVA) and spectral domain optical coherence tomography (SD-OCT). CML was defined as intraretinal hyporeflective spaces with well-defined borders visible on at least two B-scans within the SD-OCT macular volume and was categorized as cystoid macular edema (CME) or non-CME. Results: We enrolled 430 patients with genetically confirmed IRDs. CML was detected in 93 eyes of 57 patients. Mean age at OCT was 36.6 ± 18.7 years (range, 3–76); 32 were male (56.1%). Inheritance patterns were autosomal recessive in 24 (42.1%), X-linked in 19 (33.3%), and autosomal dominant in 14 (24.6%). Frequently implicated genes were RS1 (12/57), USH2A (7/57), NR2E3 (7/57), PRPF31 (4/57), RPGR (4/57), and RHO (4/57). CME predominated in retinitis pigmentosa (32/57, 56%), with mean BCVA 0.44 ± 0.29 (decimal) and central retinal thickness (CRT) 401 ± 181 µm. Non-CME CML occurred in 25/57 (44%)—notably in X-linked retinoschisis and enhanced S-cone syndrome—with BCVA 0.40 ± 0.23 and CRT 465 ± 258 µm. BCVA did not correlate with CRT (rS = 0.18). Conclusions: CML occurred in 13.2% of patients within a large Hungarian cohort of genetically confirmed IRDs. Patients with IRD—mainly RP—are at higher risk for CML. Gene therapy is promising for retinal diseases, but CMLs can compromise effectiveness. Reducing and managing CME before gene therapy corroborates retinal stability and the functional state essential for the proper delivery and penetration of corrective genes to the target cells.</abstractText>
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          <label>37. Retinal Physician (2017, October 01). Hereditary Retinal Degenerations and Cystoid Macular Edema. Available online: https://www.retinalphysician.com/issues/2017/october/hereditary-retinal-degenerations-and-cystoid-macular-edema/.</label>
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          <label>38. Ruff, A., Tezel, A., and Tezel, T.H. (2022). Anatomical and Functional Correlates of Cystic Macular Edema in Retinitis Pigmentosa. PLoS ONE, 17., DOI: 10.1371/journal.pone.0276629</label>
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      <link>/api/publication/36380150</link>
      <label>Asboth Barbara et al. Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort. (2025) GENES 2073-4425 2073-4425 16 10</label><template>&lt;div class=&quot;JournalArticle Publication short-list&quot;&gt; &lt;div class=&quot;authors&quot;&gt; &lt;span class=&quot;author-name&quot; mtid=&quot;10102768&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10102768&quot; target=&quot;_blank&quot;&gt;Asboth, Barbara&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; &gt; Sanrocco, Alessandra&lt;sup&gt;*&lt;/sup&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10070768&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10070768&quot; target=&quot;_blank&quot;&gt;Besztercei, Barbara&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10025482&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10025482&quot; target=&quot;_blank&quot;&gt;Lesch, Balazs&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10024883&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10024883&quot; target=&quot;_blank&quot;&gt;Takacs, Agnes&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10025480&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10025480&quot; target=&quot;_blank&quot;&gt;Vamos, Rita&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10030530&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10030530&quot; target=&quot;_blank&quot;&gt;Varsanyi, Balazs&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10074437&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10074437&quot; target=&quot;_blank&quot;&gt;Vegh, Andras&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10031139&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10031139&quot; target=&quot;_blank&quot;&gt;Knezy, Krisztina&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; ; &lt;span class=&quot;author-name&quot; mtid=&quot;10034767&quot;&gt; &lt;a href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10034767&quot; target=&quot;_blank&quot;&gt;Szabo, Viktoria&lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;author-type&quot;&gt; &lt;/span&gt; et al. &lt;/div &gt;&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;36380150&quot; mtid=&quot;36380150&quot; target=&quot;_blank&quot;&gt;Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort&lt;/a&gt;&lt;/div&gt; &lt;div class=&quot;pub-info&quot;&gt; &lt;span class=&quot;journal-title&quot;&gt;GENES&lt;/span&gt; &lt;span class=&quot;journal-volume&quot;&gt;16&lt;/span&gt; : &lt;span class=&quot;journal-issue&quot;&gt;10&lt;/span&gt; &lt;span class=&quot;page&quot;&gt; Paper: 1212 , 16 p. &lt;/span&gt; &lt;span class=&quot;year&quot;&gt;(2025)&lt;/span&gt; &lt;/div&gt; &lt;div class=&quot;pub-end&quot;&gt;&lt;div class=&quot;identifier-list&quot;&gt; &lt;span class=&quot;identifiers&quot;&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;10.3390/genes16101212&quot; target=&quot;_blank&quot; href=&quot;https://doi.org/10.3390/genes16101212&quot;&gt; DOI &lt;/a&gt; &lt;/span&gt; &lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt; &lt;a style=&quot;color:blue&quot; title=&quot;001601585700001&quot; target=&quot;_blank&quot; href=&quot;https://www.webofscience.com/wos/woscc/full-record/001601585700001&quot;&gt; 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&lt;span class=&quot;pub-type&quot;&gt;Folyóiratcikk (Szakcikk ) &lt;/span&gt; &lt;!-- &amp;&amp; !record.category.scientific --&gt; &lt;span class=&quot;pub-category&quot;&gt;Tudományos&lt;/span&gt; &lt;/div&gt; &lt;/div&gt; &lt;/div&gt;</template><template2>&lt;div class=&quot;JournalArticle Publication long-list&quot;&gt;
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																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10102768&quot; target=&quot;_blank&quot;&gt;Asboth Barbara
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Asbóth Barbara&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Orvostudomány&lt;/span&gt;)
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; &gt;Sanrocco Alessandra&lt;sup&gt;*&lt;/sup&gt;
    &lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10070768&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10070768&quot; target=&quot;_blank&quot;&gt;Besztercei Barbara
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Besztercei Barbara&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Szemészet&lt;/span&gt;)
			&lt;/a&gt;
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10025482&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10025482&quot; target=&quot;_blank&quot;&gt;Lesch Balazs
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Lesch Balázs&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Szemészet&lt;/span&gt;)
			&lt;/a&gt;
    &lt;/span&gt;
&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10024883&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10024883&quot; target=&quot;_blank&quot;&gt;Takacs Agnes
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Takács Ágnes Ildikó&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Szemészet&lt;/span&gt;)
			&lt;/a&gt;
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10025480&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10025480&quot; target=&quot;_blank&quot;&gt;Vamos Rita
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Vámos Rita&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Szemészet&lt;/span&gt;)
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10030530&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10030530&quot; target=&quot;_blank&quot;&gt;Varsanyi Balazs
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Varsányi Balázs&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Szemészet&lt;/span&gt;)
			&lt;/a&gt;
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10074437&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10074437&quot; target=&quot;_blank&quot;&gt;Vegh Andras
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Végh András&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; szemészet&lt;/span&gt;)
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10031139&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10031139&quot; target=&quot;_blank&quot;&gt;Knezy Krisztina
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Knézy Krisztina&lt;/span&gt;
            &lt;span class=&quot;authorAux-mtmt&quot;&gt; szemészet&lt;/span&gt;)
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&lt;span class=&quot;author-affil&quot;&gt;&lt;span title=&quot;Semmelweis Egyetem&quot;&gt;SE&lt;/span&gt;/&lt;span title=&quot;Általános Orvostudományi Kar&quot;&gt;AOK&lt;/span&gt;/&lt;span title=&quot;Klinikum&quot;&gt;K&lt;/span&gt;/Szemészeti Klinika&lt;/span&gt;
;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10034767&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10034767&quot; target=&quot;_blank&quot;&gt;Szabo Viktoria
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Szabó Viktória&lt;/span&gt;
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
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																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10009641&quot; target=&quot;_blank&quot;&gt;Nagy Zoltan Zsolt
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            &lt;span class=&quot;authorAux-mtmt&quot;&gt; Szemészet&lt;/span&gt;)
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;&amp;nbsp;&amp;nbsp;&amp;nbsp;
							&lt;span class=&quot;author-name&quot; mtid=&quot;10037592&quot;&gt;&lt;a 
																				   href=&quot;/gui2/?type=authors&amp;mode=browse&amp;sel=10037592&quot; target=&quot;_blank&quot;&gt;Zobor Ditta ✉
            (&lt;span class=&quot;authorship-author-name&quot;&gt;Zobor Annamária Ditta&lt;/span&gt;
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				    &lt;/div&gt;
&lt;/div&gt;
&lt;div class=&quot;title&quot;&gt;&lt;a href=&quot;/gui2/?mode=browse&amp;params=publication;36380150&quot; target=&quot;_blank&quot;&gt;Cystoid Macular Lesions in Inherited Retinal Diseases: Prevalence, Characteristics, and Genetic Associations in a Hungarian Cohort&lt;/a&gt;&lt;/div&gt;    &lt;div&gt;		&lt;span class=&quot;journal-title&quot;&gt;GENES&lt;/span&gt;

        &lt;span class=&quot;journal-issn&quot;&gt;(&lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/2073-4425&quot;&gt;2073-4425&lt;/a&gt; &lt;a target=&quot;_blank&quot; href=&quot;https://portal.issn.org/resource/ISSN/2073-4425&quot;&gt;2073-4425&lt;/a&gt;)&lt;/span&gt;:
		&lt;span class=&quot;journal-volume&quot;&gt;16&lt;/span&gt; &lt;span class=&quot;journal-issue&quot;&gt;10&lt;/span&gt;
&lt;span class=&quot;page&quot;&gt;
		Paper 1212.
	 16 p. 
&lt;/span&gt;		 &lt;span class=&quot;year&quot;&gt;(2025)&lt;/span&gt;  
    &lt;/div&gt;
&lt;div class=&quot;pub-footer&quot;&gt;
    

	&lt;span class=&quot;language&quot; xmlns=&quot;http://www.w3.org/1999/html&quot;&gt;Nyelv:
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									DOI
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						&lt;span class=&quot;id identifier oa_none&quot; title=&quot;none&quot;&gt;
							
							&lt;a style=&quot;color:blue&quot; title=&quot;001601585700001&quot; target=&quot;_blank&quot; href=&quot;https://www.webofscience.com/wos/woscc/full-record/001601585700001&quot;&gt;
									WoS
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							&lt;a style=&quot;color:blue&quot; title=&quot;105020058121&quot; target=&quot;_blank&quot; href=&quot;http://www.scopus.com/record/display.url?origin=inward&amp;eid=2-s2.0-105020058121&quot;&gt;
									Scopus
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							&lt;a style=&quot;color:blue&quot; title=&quot;41153429&quot; target=&quot;_blank&quot; href=&quot;http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;list_uids=41153429&amp;dopt=Abstract&quot;&gt;
									PubMed
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	&lt;OnlyViewableByAuthor&gt;&lt;div class=&quot;ratings&quot;&gt;
				&lt;div class=&quot;journal-subject&quot;&gt;Folyóirat szakterülete: Scopus - Genetics (clinical)&amp;nbsp;&amp;nbsp;&amp;nbsp;SJR indikátor:&amp;nbsp;Q2&lt;/div&gt;
				&lt;div class=&quot;journal-subject&quot;&gt;Folyóirat szakterülete: Scopus - Genetics&amp;nbsp;&amp;nbsp;&amp;nbsp;SJR indikátor:&amp;nbsp;Q2&lt;/div&gt;
    &lt;/div&gt;&lt;/OnlyViewableByAuthor&gt;


    
    



    &lt;div class=&quot;mtid&quot;&gt;&lt;span class=&quot;long-pub-mtid&quot;&gt;Közlemény: 36380150&lt;/span&gt;
    | &lt;span class=&quot;status-data status-VALIDATED&quot;&gt; 	Egyeztetett
  &lt;/span&gt;
        
	
	
Forrás	
	
	
    | &lt;span class=&quot;type-subtype&quot;&gt;Folyóiratcikk
			( Szakcikk
			
			)
		&lt;/span&gt;
      		| &lt;span class=&quot;pub-category&quot;&gt;Tudományos&lt;/span&gt;
	| &lt;span class=&quot;publication-sourceOfData&quot;&gt;&lt;/span&gt;
&lt;/div&gt;


&lt;div class=&quot;lastModified&quot;&gt;Utolsó módosítás: 2025.11.03. 14:00 Szalóky-Siki Ágnes (SE_KK_Admin5_SZSA, admin)
&lt;/div&gt;




	&lt;pre class=&quot;comment&quot; style=&quot;margin-top: 0; margin-bottom: 0;&quot;&gt;&lt;u&gt;Megjegyzés&lt;/u&gt;: Asboth and Sanrocco authors contributed equally to this work.&lt;/pre&gt;
&lt;/div&gt;&lt;/div&gt;</template2>
    </publication>
  </content>
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