{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T17:29:35Z","timestamp":1761845375792,"version":"3.40.5"},"reference-count":0,"publisher":"Komitet Redakcyjno - Wydawniczy Polskiego Towarzystwa Psychiatrycznego","issue":"2","license":[{"start":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T00:00:00Z","timestamp":1619740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T00:00:00Z","timestamp":1619740800000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,4,30]],"date-time":"2021-04-30T00:00:00Z","timestamp":1619740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Psychiatr Pol"],"published-print":{"date-parts":[[2021,4,30]]},"abstract":"<jats:p>Przedstawiamy przypadek kliniczny pacjentki z zaburzeniami psychiatrycznym u kt\u00f3rej w 63 roku \u017cycia postawiono rozpoznanie zespo\u0142u DiGeorga, zespo\u0142u Fahra oraz zespo\u0142u Turnera.  Wed\u0142ug naszej wiedzy jest to pierwszy na \u015bwiecie opisany przypadek wsp\u00f3\u0142wyst\u0119powania zespo\u0142u DiGeorga z zespo\u0142em Turnera o kariotypie mozaikowym. Symetryczne zwapnienia j\u0105der podstawy m\u00f3zgu, nazywane zespo\u0142em Fahra,  mog\u0105 rozwin\u0105\u0107 si\u0119 u chorych z zespo\u0142em DiGeorga w konsekwencji zaburze\u0144 gospodarki wapniowo\u2013fosforanowej wynikaj\u0105cej z pierwotnej niedoczynno\u015bci przytarczyc. Zar\u00f3wno brak jednej kopii gen\u00f3w fragmentu 11.2 d\u0142ugiego ramienia chromosomu 22 w zespole DiGeorga jak i zwapnienia j\u0105der podstawy m\u00f3zgu w zespole Fahra, a wed\u0142ug niekt\u00f3rych doniesie\u0144 r\u00f3wnie\u017c zaburzenia genetyczne w zespole Turnera o kariotypie mozaikowym, predysponuj\u0105 do rozwoju zaburze\u0144 psychiatrycznych. Wiod\u0105c\u0105 manifestacj\u0105 kliniczn\u0105 chor\u00f3b genetycznych u naszej pacjentki by\u0142a d\u0142ugoletnia, oporna na leczenie depresja z zaburzeniami snu i halucynoza organiczna. W nast\u0119pstwie ci\u0119\u017ckich zaburze\u0144 afektywnych pacjentka podj\u0119\u0142a pr\u00f3b\u0119 samob\u00f3jcz\u0105. Celem naszej pracy jest zwr\u00f3cenie uwagi na subtelne cechy w badaniu klinicznym, kt\u00f3re mog\u0105 doprowadzi\u0107 do rozpoznania choroby genetycznej u pacjent\u00f3w z zaburzeniami psychiatrycznymi. Omawiamy r\u00f3wnie\u017c predyspozycj\u0119 do wyst\u0119powania objaw\u00f3w psychiatrycznych w zespo\u0142u DiGeorga, zespole Fahra oraz zespole Turnera.<\/jats:p>","DOI":"10.12740\/pp\/119376","type":"journal-article","created":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T18:47:30Z","timestamp":1621018050000},"page":"397-404","source":"Crossref","is-referenced-by-count":3,"title":["Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms \u2013 a case report"],"prefix":"10.12740","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4529-7560","authenticated-orcid":false,"given":"Ewa","family":"Zalewska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Gnaci\u0144ska-Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0141ukasz","family":"Obo\u0142o\u0144czyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krzysztof","family":"Sworczak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5036","published-online":{"date-parts":[[2021,4,30]]},"container-title":["Psychiatria Polska"],"original-title":["Zaburzenia psychiatryczne u pacjentki z zespo\u0142em DiGeorge\u2019a, zespo\u0142em Fahra i zespo\u0142em Turnera \u2013 opis przypadku"],"link":[{"URL":"https:\/\/www.psychiatriapolska.pl\/pdf-119376-81725","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.psychiatriapolska.pl\/pdf-119376-81725","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,18]],"date-time":"2022-10-18T06:49:44Z","timestamp":1666075784000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.psychiatriapolska.pl\/Coexistence-of-DiGeorge-syndrome-with-Fahr-syndrome-mosaic-Turner-syndrome-and-psychiatric,119376,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,30]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021]]}},"alternative-id":["119376"],"URL":"https:\/\/doi.org\/10.12740\/pp\/119376","relation":{},"ISSN":["0033-2674","2391-5854"],"issn-type":[{"type":"print","value":"0033-2674"},{"type":"electronic","value":"2391-5854"}],"subject":[],"published":{"date-parts":[[2021,4,30]]}}}