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Szanowni Państwo!

Dr Anna Hogendorf z Kliniki Pediatrii, Onkologii, Hematologii i Diabetologii Uniwersytetu Medycznego w Łodzi poszukuje pacjentów z zespołem delecji 18 q (zespół delecji 18q, chromosome 18q deletion syndrome, zespół 18q- , zespół De Grouchy’ego typu 2 (MIM#601808), do udziału w projekcie pt.

 „Zespół delecji 18q jako przyczyna autoimmunologicznej postaci cukrzycy  współistniejącej z niedoborem odporności”, realizowanego w ramach grantu naukowego PTD

W badaniu mogą wziąć udział wszyscy pacjenci z 18q del, bez względu na wiek, zwłaszcza ci ze współistniejącymi chorobami autoimmunologicznymi (cukrzyca typu 1, choroba Hashimoto, Graves’a-Basedova, choroba Addisona, reumatoidalne zapalenie stawów, toczeń rumieniowaty układowy itp.) i/lub niedoborem IgA lub innych klas immunoglobulin lub wywiadem wskazującym na niedobór odporności

W ramach badania pacjenci będą mieli wykonane bezpłatnie dokładne badania genetyczne, z zastosowaniem nowoczesnych technologii analizy DNA, takich jak porównawcza hybrydyzacja genomowa (aCHG, ang.comparative genomic hybridization), immunologiczne i hormonalne.

Wszystkich zainteresowanych Rodziców, Pacjentów i Lekarzy proszę o kontakt:

dr Anna Hogendorf Klinika Pediatrii, Onkologii, Hematologii i Diabetologii Uniwersytetu Medycznego w Łodzi, ul.Sporna 36/50 91-738 Łódź

tel. 505-979-152
email: lub

Pozdrawiam serdecznie
Anna Hogendorf

ANKIETA - Wspomaganie rozwoju i poprawa jakości życia osób chorych na achondroplazję

Nazywam się Agnieszka Biskup. Jestem studentką IV roku fizjoterapii na Śląskim Uniwersytecie Medycznym. Zamierzam napisać pracę magisterską poświęconą możliwościom poprawy jakości życia chorych na Achondroplazję. Moim zdaniem istniejąca literatura na ten temat jest bardzo skromna, w związku z czym wypełniona poniższa ankieta bardzo pomogłaby mi w napisaniu dobrej, solidnej pracy.

LINK do Ankiety >>> 

Centrum Zdrowia ASGO w ramach NFZ oferuje rehabilitację i wczesną interwencję

Serdecznie zapraszamy do Centrum Zdrowia ASGO w Poznaniu na ul. Marcelińską 92-94, w którym dziennie badamy, leczymy i rehabilitujemy ok. 70 niemowląt i dzieci. Zapewniamy specjalistyczne, indywidualne wsparcie w ramach NFZ Pacjentom ze schorzeniami genetycznymi (zespół Downa, dystrofia mięśniowa Duchenne`a, zespół Ehlersa-Danlosa, zespół Lejeune’a zwany zespołem kociego krzyku, zespół Cockayne`a), neurologicznymi (mózgowe porażenie dziecięce, autyzm, stwardnienie rozsiane, zespół Dyke Davidoffa Massona), z asymetrią oraz wcześniakom. Spośród zabiegów fizjoterapeutycznych oferujemy: kinezyterapię, hydroterapię, masaże.

Wysoką skuteczność terapii osiągamy dzięki dostosowaniu jej do potrzeb i schorzeń naszych najmłodszych Pacjentów. Ich usprawnianie w zgodzie z wiekiem rozwojowym odbywa się pod opieką współpracującego ze sobą interdyscyplinarnego zespołu – fizjoterapeutów, osteopatów, lekarzy. Konsultują ze sobą przypadek Pacjenta, ustalają przebieg jego terapii i wymieniają się istotnymi informacjami na temat historii jego leczenia. Duży nacisk kładą na propagowanie profilaktyki prozdrowotnej oraz profesjonalne doradztwo. ASGO to ośrodek bez barier, dostosowany do osób niepełnosprawnych, o wysokim standardzie wyposażenia, dzięki czemu każdy Pacjent czuje się u nas swobodnie i bezpiecznie. Więcej informacji pod telefonem: 61 890 64 38 bądź na stronie


Komunikat - Zespół Ehlersa-Danlosa

Komunikat dla pacjentów u których rozpoznano  Zespół Ehlersa-Danlosa, o możliwości wykonania nieodpłatnych, diagnostycznych badań genetycznych w kierunku ww. Zespołu. Udział w badaniach wiązałby się z wizytą w Poradni Genetycznej Szpitala Uniwersyteckiego im. Jurasza w Bydgoszczy. Badania genetyczne zostaną wykonane w Katedrze i Zakładzie Genetyki Klinicznej. Do udziału w badaniach zapraszamy Pacjentów u których rozpoznano Zespół Ehlersa-Danlosa bez względu na podtyp choroby.

Pacjentów zainteresowanych udziałem w badaniach proszę o osobisty kontakt pod numerem telefonu 52 585 3671

Nowa platforma e-Learningowa Stowarzyszenia "GEN"

Zapraszamy Państwa na nową platformę e-Learningową Stowarzyszenia "GEN"


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Podajemy nowu numer konta bankowego Stowarzyszenia "GEN" : BZ WBK SA w Poznaniu Nr 32 1090 1362 0000 0001 1958 8093
Nowe książki

W dziale "Warto przeczytać" polecamy dwie nowe pozycje wydane przez Oficynę Wydawniczą Impuls"

istniec_m.jpgIstnieć, żyć i być kochanym
Możliwości wspomagania rozwoju dzieci z zespołami uwarunkowanymi genetycznie

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Studium pedagogiczno-kryminologiczne

szcegóły >>>>tutaj

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odpowiedzialni_rodzice.jpgSzczególnie serdecznie polecamy książkę prof. Małgorzaty Kościelskiej pt. "Odpowiedzialni rodzice z doświadczeń psychologa"

Odpowiedzialni rodzice – tytuł wieloznaczny, bo i pojęcie odpowiedzialności ma wiele znaczeń. Czy w niniejszej książce jest mowa o rodzicach, którzy we właściwy sposób troszczą się o swoje dzieci i zabiegają o ich dobrą przyszłość? Czytelników może interesować, jak z punktu widzenia psychologii lub choćby tylko autorki – psychologa – powinno się rozwiązywać współczesne dylematy wychowawcze z najlepszym skutkiem dla rozwoju dzieci i dobra rodziny.



UWAGA - Zmiana adresu Stowarzyszenia
Stowarzyszenie GEN od 1 stycznia 2011 roku zmienia adres. Nowa siedziba będzie pod adresem:
ul. Okrężna 6, Krzyszkowo, 62-090 Rokietnica.

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