GLORIA

GEOMAR Library Ocean Research Information Access

X

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Online Resource
    Online Resource
    A herediter haemorrhagiás teleangiectasia (Osler–Weber–Rendu-kór) genetikai diagnosztikája
    Akademiai Kiado Zrt. ; 2019
    In:  Orvosi Hetilap Vol. 160, No. 18 ( 2019-05), p. 710-719
    Details
    In: Orvosi Hetilap, Akademiai Kiado Zrt., Vol. 160, No. 18 ( 2019-05), p. 710-719
    Abstract: Abstract: Introduction: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a worldwide prevalence of 1 : 5000 – 1 : 10 000. Diagnosis is based on clinical Curacao criteria. Approximately 85% of HHT cases have heterozygous family-specific mutations in the ENG or ACVRL1 genes. Aim: We investigated 23 Hungarian HHT families, established the genetic diagnosis, executed family-screening and confirmed founder effects. Method: Probands were identified by the stratified population screening of the primary attendance area of our institution and from individuals contacting our study group voluntarily. Diagnosis is based on the otorhinolaryngological physical examination completed with characteristic telangiectasis sites, a visceral arteriovenous malformation screening and the sequence analysis of ENG and ACVRL1 genes. The family screening consists of physical examination and genetic screening for the family-specific mutation, followed by the arteriovenous malformation screening in patients with definite/suspected HHT and/or in individuals with the mutation. Results: Sixty-three individuals with family-specific mutations were identified in 22 families, 48 of them with definite and 12 with suspected HHT. Seven ENG and ACVRL1 mutations were detected, respectively; most of these are pathogenic. Three founder mutations were observed. One proband with definite HHT had wild-type alleles in all tested HHT-specific loci. Conclusions: The significance of genetic testing is confirming or excluding HHT in young asymptomatic individuals in families with pathogenic mutations. As ENG and ACVRL1 mutations result in overlapping fenotypes, the genetic testing lacks any prognostic value. The identification of founder effects might simplify the genetic diagnosis of new HHT patients from a given region. Orv Hetil. 2019; 160(18): 710–719.
    Type of Medium: Online Resource
    ISSN: 0030-6002 , 1788-6120
    URL: Article
    DOI: 10.1556/650.2019.31380
    Language: Hungarian
    Publisher: Akademiai Kiado Zrt.
    Publication Date: 2019
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 2
    Online Resource
    Online Resource
    Pitfalls of delaying the diagnosis of hereditary haemorrhagic telangiectasia
    SAGE Publications ; 2020
    In:  Journal of International Medical Research Vol. 48, No. 2 ( 2020-02), p. 030006051986097-
    Details
    In: Journal of International Medical Research, SAGE Publications, Vol. 48, No. 2 ( 2020-02), p. 030006051986097-
    Abstract: Hereditary haemorrhagic telangiectasia (HHT; Osler–Weber–Rendu disease) is an autosomal dominant vascular disease characterized by nosebleeds, mucocutaneous telangiectases, visceral arteriovenous malformations (AVM) and a first-degree relative with HHT. Diagnosis is definite if three or four criteria are present. This case report describes a 19-year-old male with incidentally detected polycythaemia and an associated soft-tissue opacity over the left lower lobe on his frontal chest radiogram. He had experienced dyspnoea on exertion since infancy and clubbing at physical examination. Polycythaemia vera, chronic obstructive pulmonary disease, sleep apnoea and cyanotic congenital heart disease were excluded. Chest computed tomography (CT) was initially refused by the patient, but 3 years later he presented with severe epistaxis. Considering the unvarying soft tissue mass and erythrocytosis, an HHT-associated pulmonary AVM (PAVM) was eventually confirmed by chest CT. A pathogenic family-specific ENG c.817-2 A 〉 C mutation was detected in the patient. The large PAVM was successfully treated using AMPLATZER™ vascular plug embolization. A combination of the multisystemic nature of his symptoms, the age-related penetrance of HHT symptoms and insufficient patient compliance delayed the diagnosis of HHT in this current case.
    Type of Medium: Online Resource
    ISSN: 0300-0605 , 1473-2300
    URL: Article
    DOI: 10.1177/0300060519860971
    Language: English
    Publisher: SAGE Publications
    Publication Date: 2020
    detail.hit.zdb_id: 2082422-1
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 3
    Online Resource
    Online Resource
    Otosclerosis: an organ-specific inflammatory disease with sensorineural hearing loss
    Springer Science and Business Media LLC ; 2009
    In:  European Archives of Oto-Rhino-Laryngology Vol. 266, No. 11 ( 2009-11), p. 1711-1718
    Details
    In: European Archives of Oto-Rhino-Laryngology, Springer Science and Business Media LLC, Vol. 266, No. 11 ( 2009-11), p. 1711-1718
    Type of Medium: Online Resource
    ISSN: 0937-4477 , 1434-4726
    URL: Article
    DOI: 10.1007/s00405-009-0967-y
    RVK:
    XA 26650
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2009
    detail.hit.zdb_id: 1459042-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 4
    Online Resource
    Online Resource
    Parry–Romberg-szindróma
    Akademiai Kiado Zrt. ; 2020
    In:  Orvosi Hetilap Vol. 161, No. 28 ( 2020-07), p. 1181-1185
    Details
    In: Orvosi Hetilap, Akademiai Kiado Zrt., Vol. 161, No. 28 ( 2020-07), p. 1181-1185
    Abstract: A Parry–Romberg-szindróma ritka, lassan progrediáló, autolimitált betegség, melyet unilateralis arcfélatrophia jellemez. Általában gyerek-, fiatal felnőtt korban manifesztálódik. Az atrophia mértékének, illetve a társuló egyéb tünetek változatosságának következtében a betegség diagnózisa, a prognózis megítélése és a kezelés nagy kihívást jelent. Az esetbemutatás célja rávilágítani a diagnózis felállításának nehézségeire, bemutatni a beteg kivizsgálásának lépéseit, felhívni a figyelmet a műtét megfelelő időzítésének fontosságára, a hemifacialis atrophia mértékének megfelelő műtét kiválasztására, illetve a szindrómával gyakran előforduló betegségek keresésére. Orv Hetil. 2020; 161(28): 1181–1185.
    Type of Medium: Online Resource
    ISSN: 0030-6002 , 1788-6120
    URL: Article
    DOI: 10.1556/650.2020.31755
    Language: Unknown
    Publisher: Akademiai Kiado Zrt.
    Publication Date: 2020
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 5
    Online Resource
    Online Resource
    Perspectives of pharmacological treatment in otosclerosis
    Springer Science and Business Media LLC ; 2013
    In:  European Archives of Oto-Rhino-Laryngology Vol. 270, No. 3 ( 2013-3), p. 793-804
    Details
    In: European Archives of Oto-Rhino-Laryngology, Springer Science and Business Media LLC, Vol. 270, No. 3 ( 2013-3), p. 793-804
    Type of Medium: Online Resource
    ISSN: 0937-4477 , 1434-4726
    URL: Article
    DOI: 10.1007/s00405-012-2126-0
    RVK:
    XA 26650
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2013
    detail.hit.zdb_id: 1459042-6
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 6
    Online Resource
    Online Resource
    Gyulladás vagy daganat? : Egy hirtelen jelentkező lateralis cysticus nyaki terime tanulságai
    Akademiai Kiado Zrt. ; 2021
    In:  Orvosi Hetilap Vol. 162, No. 15 ( 2021-04-11), p. 595-600
    Details
    In: Orvosi Hetilap, Akademiai Kiado Zrt., Vol. 162, No. 15 ( 2021-04-11), p. 595-600
    Abstract: Összefoglaló. A lateralis cysticus nyaki terimék két leggyakoribb oka a branchiogen cysta és a cysticus nyaki áttét. Az átfedő lokalizáció (a leggyakrabban a IIA nyaki régióban), a betegek életkora és az esetenként hirtelen kezdet alapján a két leggyakoribb ok differenciáldiagnózisa nagy kihívást jelenthet. Egy hirtelen fellépő fájdalmas, bal oldali nyaki duzzanattal, dysphagiával és lázzal jelentkező 72 éves férfi esetét ismertetjük. A nyak komputertomográfiás vizsgálata egy 6 cm legnagyobb átmérőjű, vastag falú, többrekeszes cysticus terimét igazolt. Infektív branchiogen cysta lehetőségére gondolva az elváltozást eltávolítottuk. A szövettan azonban p16-pozitív laphámrákot igazolt. A primer tumort végül az ipsilateralis tonsilla palatina állományában sikerült azonosítani. A beteg definitív radioterápiában részesült, és 18 hónappal a diagnózis után tumormentes. A nyaki cystákon, az infektív nyaki cystákon és a cysticus metastasisokon kívül a humán papillómavírussal összefüggő szájgarati laphámrákok infektív cysticus vagy necroticus metastasisait is figyelembe kell venni a lateralis cysticus nyaki terimék differenciáldiagnózisában. Orv Hetil. 2020; 162(15): 595–600. Summary. Branchial cleft cysts and cystic neck metastases are the two most common causes of cystic lateral neck masses. Based on the overlapping location (neck level IIA), patient age at onset and the occasionally sudden onset, their differential diagnosis is challenging. We present a 72-year-old male presenting with a suddenly emerging painful, left-sided neck swelling, dysphagia and fever. Computed tomography showed a 6 cm thick-walled multicystic mass. With the suspected diagnosis of an infected branchial cleft cyst, the lesion was removed. Histology confirmed p16 positive squamous cell carcinoma. Primary tumor was identified in the ipsilateral palatine tonsil. Definive radiotherapy was performed and the patient is free of disease at the 18-month follow-up. Beyond pure and infected branchial cleft cysts and pure cystic metastases, infected cystic or necrotic metastasis of human papillomavirus associated oropharyngeal squamous cell carcinoma should be included in the differential diagnosis of cystic lateral neck lesions. Orv Hetil. 2021; 162(15): 595–600.
    Type of Medium: Online Resource
    ISSN: 0030-6002 , 1788-6120
    URL: Article
    DOI: 10.1556/650.2021.32087
    Language: Unknown
    Publisher: Akademiai Kiado Zrt.
    Publication Date: 2021
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 7
    Online Resource
    Online Resource
    DPOAE Intensity Increase at Individual Dominant Frequency after Short-Term Auditory Exposure
    Hindawi Limited ; 2013
    In:  ISRN Otolaryngology Vol. 2013 ( 2013-09-05), p. 1-9
    Details
    In: ISRN Otolaryngology, Hindawi Limited, Vol. 2013 ( 2013-09-05), p. 1-9
    Abstract: Previous experiments suggested the possibility of a short-term sound stimulus-evoked and transient increase in DPOAE amplitudes. This phenomenon is possibly due to the complexity of the outer hair cells and their efferent control system and the different time scales of regulatory processes. A total of 100 healthy subjects ranging from 18 to 40 years of age with normal hearing and normal DPOAE values in the range of 781–4000 Hz were recruited in the study. Diagnostic DPOAE measurements were performed after short-term sound exposure. We proposed a 10 sec, 50 dB sound impulse as the most effective stimulus for clinical practice between 40 and 60 sec poststimulus time to detect the aforementioned transient DPOAE increase. We developed a procedure for detection of this transient increase in DPOAE by the application of a short-term sound exposure. The phenomenon was consistent and well detectable. Based on our findings, a new aspect of cochlear adaptation can be established that might be introduced as a routine clinical diagnostic tool. A mathematical model was provided that summarizes various factors that determine electromotility of OHCs and serves as a possible clinical application using this phenomenon for the prediction of individual noise susceptibility.
    Type of Medium: Online Resource
    ISSN: 2090-5750
    URL: Article
    DOI: 10.1155/2013/379719
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2013
    detail.hit.zdb_id: 2643633-4
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 8
    Online Resource
    Online Resource
    Különböző védőeszközök hőkamerás vizsgálata és a kilélegzett levegő sebességének mérése teljes gégeeltávolításon átesett betegekben COVID–19-pandémia idején. : Egy új tesztelési módszer
    Akademiai Kiado Zrt. ; 2023
    In:  Orvosi Hetilap Vol. 164, No. 34 ( 2023-08-27), p. 1327-1336
    Details
    In: Orvosi Hetilap, Akademiai Kiado Zrt., Vol. 164, No. 34 ( 2023-08-27), p. 1327-1336
    Abstract: Bevezetés: A teljes gégeeltávolításon átesett betegeknél a légcső és a tüdő a SARS-CoV-2 közvetlen fertőzésének további helyeként szolgálhat, mivel a légúti áramlás a tracheostomán keresztül történik. Célkitűzés: Tanulmányunk célja volt, hogy megvizsgáljuk, LaryTube ™ mellett a betegek képesek-e nagyobb mértékben aeroszolok terjesztésére, mint LaryTube ™ nélkül, továbbá az, hogy megfigyeljük, vizsgálható-e különböző védőeszközök felszíne a hőkamera segítségével ebben a betegcsoportban. Fontos célkitűzésként szerepelt az is, hogy megerősítsük a feltételezést, miszerint a HME (heat and moisture exchanger – hő- és nedvességcserélő) használata önmagában nem nyújt védelmet COVID–19-pandémia esetén. Végül vizsgálataink során próbáltunk választ kapni arra a feltételezésünkre, hogy a HME belfelszínéről vett minta tesztelhető-e SARS-CoV-2 irányában. Módszer: Teljes gégeeltávolításon átesett 23 beteg kilélegzett levegőjének sebességét mértük HME-vel és HME nélkül, LaryTube ™ használatával, illetve anélkül. Az általunk kiválasztott védőeszközök felszínén hőkamerás vizsgálatot végeztünk, melyeket minden esetben a beteg stomája elé helyeztünk. A HME belfelszínéről és a trachea hátsó faláról vett váladékot az esetleges SARS-CoV-2-pozitivitás miatt PCR-vizsgálatnak vetettük alá. Eredmények: LaryTube ™ -bal ellátott férfi betegeink HME nélkül 43%-kal gyorsabban fújták ki levegőjüket, mint a LaryTube ™ nélküliek. Nők esetében ez az érték 39% fölött volt. A legalacso nyabb felszíni hőmérsékletet az FFP2-es maszk esetében regisztráltuk. A küldött minták PCR segítségével SARS-CoV-2-re tesztelhetők, vírus jelenlétét nem mutatták ki. Következtetés: A teljes gégeeltávolításon átesett betegek LaryTube ™ nélkül kisebb eséllyel képesek az aeroszolok terjesztésére, mivel hiányzik a tubus mint a stoma szűkítő tényezője. Ezen betegeknek ajánlott COVID–19-pandémia idején a vírusszűrővel ellátott HME használata, sőt a legracionálisabb megoldás a tubus elhagyása és tapaszra cserélése a HME rögzítése miatt. A használt védőeszközök felszíne hőkamerával vizsgálható laryngectomián átesett betegek esetében is. Szükség esetén bevezethető a klinikai gyakorlatba a HME belfelszínéről vett minta PCR-tesztelése SARS-CoV-2 irányában, mely sokkal biztonságosabb módszernek bizonyult. Orv Hetil. 2023; 164(34): 1327–1336.
    Type of Medium: Online Resource
    ISSN: 0030-6002 , 1788-6120
    URL: Article
    DOI: 10.1556/650.2023.32828
    Language: Unknown
    Publisher: Akademiai Kiado Zrt.
    Publication Date: 2023
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 9
    Online Resource
    Online Resource
    Activation of Src, Fyn and Yes non-receptor tyrosine kinases in keratinocytes expressing human papillomavirus (HPV) type 16 E7 oncoprotein
    Springer Science and Business Media LLC ; 2013
    In:  Virology Journal Vol. 10, No. 1 ( 2013-12)
    Details
    In: Virology Journal, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2013-12)
    Abstract: The Src family tyrosine kinases (SFK) are cellular regulatory proteins that influence cell adhesion, proliferation, invasion and survival during tumor development. Elevated activity of Src was associated with increased cell proliferation and invasivity in human papillomavirus (HPV)-associated malignancies; therefore, transduced human foreskin keratinocytes (HFK) were used to investigate whether SFK activation is a downstream effect of papillomaviral oncoproteins. Activation of ubiquitously expressed SFKs, namely Src, Yes and Fyn, was investigated in both proliferating and differentiating keratinocytes. Results In proliferating keratinocytes, Src, Yes and Fyn mRNA levels were not affected by HPV 16 E6 or E7 oncoproteins, while at the protein level as detected by western blot, the presence of both E6 and E7 resulted in substantial increase in Src and Yes expression, but did not alter the high constitutive level of Fyn. Phospo-kinase array revealed that all ubiquitously expressed SFKs are activated by phosphorylation in the presence of HPV 16 E7 oncoprotein. Keratinocyte differentiation led to increased Yes mRNA and protein levels in all transduced cell lines, while it did not influence the Src transcription but resulted in elevated Src protein level in HPV16 E7 expressing lines. Conclusions This study revealed that HPV 16 oncoproteins upregulate Src family kinases Src and Yes via posttranscriptional mechanisms. A further effect of HPV 16 E7 oncoprotein is to enhance the activating phosphorylation of SFKs expressed in keratinocytes.
    Type of Medium: Online Resource
    ISSN: 1743-422X
    URL: Article
    DOI: 10.1186/1743-422X-10-79
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2013
    detail.hit.zdb_id: 2160640-7
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
  • 10
    Online Resource
    Online Resource
    The c-MYC Protooncogene Expression in Cholesteatoma
    Hindawi Limited ; 2014
    In:  BioMed Research International Vol. 2014 ( 2014), p. 1-6
    Details
    In: BioMed Research International, Hindawi Limited, Vol. 2014 ( 2014), p. 1-6
    Abstract: Cholesteatoma is an epidermoid cyst, which is most frequently found in the middle ear. The matrix of cholesteatoma is histologically similar to the matrix of the epidermoid cyst of the skin (atheroma); their epithelium is characterized by hyperproliferation. The c-MYC protooncogene located on chromosome 8q24 encodes a transcription factor involved in the regulation of cell proliferation and differentiation. Previous studies have found aneuploidy of chromosome 8, copy number variation of c-MYC gene, and the presence of elevated level c-MYC protein in cholesteatoma. In this study we have compared the expression of c-MYC gene in samples taken from the matrix of 26 acquired cholesteatomas (15 children and 11 adults), 15 epidermoid cysts of the skin (atheromas; head and neck region) and 5 normal skin samples (retroauricular region) using RT-qPCR, providing the first precise measurement of the expression of c-MYC gene in cholesteatoma. We have found significantly elevated c-MYC gene expression in cholesteatoma compared to atheroma and to normal skin samples. There was no significant difference, however, in c-MYC gene expression between cholesteatoma samples of children and adults. The significant difference in c-MYC gene expression level in cholesteatoma compared to that of atheroma implies a more prominent hyperproliferative phenotype which may explain the clinical behavior typical of cholesteatoma.
    Type of Medium: Online Resource
    ISSN: 2314-6133 , 2314-6141
    URL: Article
    DOI: 10.1155/2014/639896
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2014
    detail.hit.zdb_id: 2698540-8
    Location Call Number Limitation Availability
    BibTip Others were also interested in ...
    Online Resource
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...