LIVIVO - Das Suchportal für Lebenswissenschaften

switch to English language
Zurück zur letzten Suche Suchhistorie
Erweiterte Suche

Ihre letzten Suchen

  1. AU="Piraino, Domenica Carmen"
  2. AU="Owens, Janel E"
  3. AU="Vella, Kevin"
  4. AU="Eisenhaure, Thomas M"
  5. AU="Eggenberger, Caleb"
  6. AU="Choi, Seung-Hye"
  7. AU="Hans, B. T. Hackett S."
  8. AU="Singh, Ronak"
  9. AU=Forcados Gilead Ebiegberi
  10. AU="Kasperbauer, Jan L."
  11. AU="Xiang, Fangfei"
  12. AU=Bhattacharyya Rupam
  13. AU="Stefanski, R J"
  14. AU="Huiyuan Zhang"
  15. AU="Garg, Shivam Kumar"
  16. AU="Bart J. A. Rijnders"
  17. AU="Malaise, D"
  18. AU="Ahammad, Rijwan U"
  19. AU="Wong, Man Yu"
  20. AU="Yilmaz, Adnan"
  21. AU="Turkyilmaz, Ayberk"
  22. AU="Ryan, Sophia C"
  23. AU="Stino, Heiko"
  24. AU=Fischbeck K H
  25. AU="Giadinis, Nektarios D"
  26. AU="Patten, Scott"
  27. AU="Verma, Deepika"
  28. AU="Foo, Anthony Tun Lin"
  29. AU="Georgia Panagiotakos"
  30. AU="Tennankore, Karthik K."
  31. AU=Kubota Kenji
  32. AU="Vieille, Peggy"
  33. AU="Kan, Yin-Shi"
  34. AU="Jasińska-Balwierz, Agata"
  35. AU="Hargitai, Rita"
  36. AU=Ueda Kazumitsu
  37. AU="Andrew N. Jordan"
  38. AU="Millemaggi, Alessia"
  39. AU=Paulsen Paige
  40. AU="Fan, Su-Su"
  41. AU="de Azeredo, Andressa Cardoso"
  42. AU="Miller, Russell"
  43. AU="A Mombet"

Suchergebnis

Treffer 1 - 4 von insgesamt 4

Suchoptionen

  1. Artikel: Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography.

    Abdolrahimzadeh, Barmak / Piraino, Domenica Carmen / Albanese, Giorgio / Cruciani, Filippo / Rahimi, Siavash

    Clinical ophthalmology (Auckland, N.Z.)

    2016  Band 10, Seite(n) 851–860

    Abstract: Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable ... ...

    Abstract Neurofibromatosis (NF) is a multisystem disorder and tumor predisposition syndrome caused by genetic mutation on chromosome 17-17q11.2 in NF type 1 (NF1), and on chromosome 22-22q12.2 in NF type 2. The disorder is characterized by considerable heterogeneity of clinical expression. NF1 is the form with the most characteristic ocular manifestations. Lisch nodules of the iris are among the well-known diagnostic criteria for the disease. Glaucoma and associated globe enlargement have been described in a significant proportion of patients with NF1 and orbital-facial involvement. Optic nerve glioma may cause strabismus and proptosis, and palpebral neurofibroma may reach considerable size and occasionally show malignant transformation. Near infrared reflectance has greatly contributed to enhancing our knowledge on choroidal alterations in NF1. Indeed, some authors have proposed to include these among the diagnostic criteria. Optical coherence tomography has given new insight on retinal alterations and is a noninvasive tool in the management of optic nerve gliomas in children. Ocular manifestations in NF type 2 can range from early-onset cataracts in up to 80% of cases to optic nerve hamartomas and combined pigment epithelial and retinal hamartomas.
    Sprache Englisch
    Erscheinungsdatum 2016-05-13
    Erscheinungsland New Zealand
    Dokumenttyp Journal Article ; Review
    ISSN 1177-5467
    ISSN 1177-5467
    DOI 10.2147/OPTH.S102830
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

    Fernleihe an ZB MED

    Sie können sich den gewünschten Titel als lokale Nutzerin oder lokaler Nutzer von ZB MED direkt an den Standort Köln schicken lassen.

  2. Artikel ; Online: Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a Non-Classified Mutational Variant of the NF-1 Gene.

    Abdolrahimzadeh, Solmaz / Piraino, Domenica Carmen / Plateroti, Rocco / Scuderi, Gianluca / Recupero, Santi Maria

    Ophthalmic genetics

    2016  Band 37, Heft 2, Seite(n) 214–216

    Abstract: Background: Neurofibromatosis type 1 (NF-1) is an autsomal dominant disorder which can occasionally result from somatic mosaicism and manifest as segmental forms of the disease.: Methods: A 37-year-old woman with ascertained NF-1, based on clinical ... ...

    Abstract Background: Neurofibromatosis type 1 (NF-1) is an autsomal dominant disorder which can occasionally result from somatic mosaicism and manifest as segmental forms of the disease.
    Methods: A 37-year-old woman with ascertained NF-1, based on clinical diagnostic criteria and genetic analysis, was referred for ophthalmological evaluation. Genetic analysis, magnetic resonance imaging (MRI), complete ophthalmological examination, and near infrared reflectance (NIR) images at 815 nm of the retina were obtained.
    Results: Genetic analysis revealed a non-classified mutational variant of the NF-1 gene identified as NM_000267.3:c2084T > C (p.Leu695Pro.T). MRI demonstrated non-symptomatic bilateral optic nerve gliomas. The only cutaneous sign was a subcutaneous neurofibroma of the posterior cervical region. Slit-lamp examination showed bilateral Lisch nodules. NIR images of the retina did not show any choroidal hamartomas.
    Discussion: We report a rare case of segmental neurofibromatosis with a non-classified mutational variant of the NF-1 gene described in only one previous case in the literature. The patient presented with clinical features of NF-1 localized to the head and neck region, compatible with diagnosis of segmental NF-1. Interestingly, ocular manifestations included bilateral optic nerve gliomas and Lisch nodules, but no choroidal hamartomas.
    Mesh-Begriff(e) Adult ; Female ; Genes, Neurofibromatosis 1 ; Hamartoma/diagnosis ; Hamartoma/genetics ; Head and Neck Neoplasms/genetics ; Head and Neck Neoplasms/pathology ; Humans ; Infrared Rays ; Iris Diseases/diagnosis ; Iris Diseases/genetics ; Magnetic Resonance Imaging ; Neurofibromatoses/genetics ; Neurofibromatoses/pathology ; Optic Nerve Glioma/diagnosis ; Optic Nerve Glioma/genetics
    Sprache Englisch
    Erscheinungsdatum 2016-06
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1199279-7
    ISSN 1744-5094 ; 0167-6784 ; 1381-6810
    ISSN (online) 1744-5094
    ISSN 0167-6784 ; 1381-6810
    DOI 10.3109/13816810.2015.1020560
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Verfügbar in ZB MED Köln/Königswinter

    Zs.A 1708: Hefte anzeigen Standort:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  3. Artikel ; Online: Retinal microvascular abnormalities overlying choroidal nodules in neurofibromatosis type 1.

    Abdolrahimzadeh, Solmaz / Felli, Lorenzo / Piraino, Domenica Carmen / Mollo, Roberto / Calvieri, Stefano / Recupero, Santi Maria

    BMC ophthalmology

    2014  Band 14, Seite(n) 146

    Abstract: Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder involving aberrant proliferation of multiple tissues of neural crest origin. Retinal vascular alterations in NF1 have rarely been reported in the literature and their nature is ...

    Abstract Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder involving aberrant proliferation of multiple tissues of neural crest origin. Retinal vascular alterations in NF1 have rarely been reported in the literature and their nature is not clear. This study describes distinctive retinal microvascular alterations and their relationship to choroidal nodules in patients with neurofibromatosis type 1.
    Methods: This was a retrospective study where records of seventeen consecutive patients with diagnosis of NF1, presenting Lisch nodules and choroidal alterations, and 17 age and gender-matched healthy control patients were evaluated. Fundus photographs, near infrared reflectance and enhanced depth imaging - optical coherence tomography images were reviewed. Retinal microvascular abnormalities and choroidal and retinal alterations in proximity of the retinal microvacular alterations were carefully noted.
    Results: 6 patients (35%) presented distinctive microvascular abnormalities. These consisted of small, tortuous vessels with a "spiral" or "corckscrew" aspect. They were second or third order, small tributaries of the superior or inferior temporal vein. These vessels were all located overlying choroidal alterations as observed with near infrared reflectance. Enhanced depth imaging - optical coherence tomography showed alteration of choroidal vasculature due to the presence of choroidal nodules but otherwise retinal and choroidal cross-sections were unremarkable for morphology.
    Conclusions: Retinal microvascular alterations overlying choroidal nodules in patients with NF1 can be considered another distinctive characteristic of the disease. Although the nature of these alterations is not clear, the authors speculate that functional disorders of vasomotor nerve cells, which originate in the embryonal neural crest can lead to their formation.
    Mesh-Begriff(e) Adult ; Choroid Diseases/diagnosis ; Female ; Humans ; Male ; Middle Aged ; Neurofibromatosis 1/diagnosis ; Retinal Diseases/diagnosis ; Retinal Vessels/pathology ; Retrospective Studies ; Tomography, Optical Coherence
    Sprache Englisch
    Erscheinungsdatum 2014-11-25
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2050436-6
    ISSN 1471-2415 ; 1471-2415
    ISSN (online) 1471-2415
    ISSN 1471-2415
    DOI 10.1186/1471-2415-14-146
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

  4. Artikel ; Online: Spectral domain optical coherence tomography and B-scan ultrasonography in the evaluation of retinal tears in acute, incomplete posterior vitreous detachment.

    Abdolrahimzadeh, Solmaz / Piraino, Domenica Carmen / Scavella, Vittorio / Abdolrahimzadeh, Barmak / Cruciani, Filippo / Gharbiya, Magda / Recupero, Santi Maria

    BMC ophthalmology

    2016  Band 16, Seite(n) 60

    Abstract: Background: The purpose of this study was to evaluate the extension and traction effects of posterior vitreous detachment (PVD) complicated with retinal tears using spectral domain optical coherence tomography (OCT) and B-scan ultrasonography.: ... ...

    Abstract Background: The purpose of this study was to evaluate the extension and traction effects of posterior vitreous detachment (PVD) complicated with retinal tears using spectral domain optical coherence tomography (OCT) and B-scan ultrasonography.
    Methods: Complete ophthalmological examination, B-scan ultrasonography and spectral domain OCT were performed in patients with acute PVD and retinal tears. Vitreous detachment was classified as complete or incomplete, based on extent of posterior pole or peripheral vitreous detachment. Retinal tear location and persistent traction on the retinal flap was evaluated with B-scan ultrasonography and OCT. Categorical data were evaluated with Fisher's exact test. Statistical significance was considered as P < 0.05.
    Results: Twenty-six eyes of 25 patients were assessed. Four eyes (15 %) presented complete PVD with detachment at the posterior pole and periphery. 22 eyes (85 %) presented incomplete PVD with detachment in the periphery. Twenty eyes presented retinal tears in the superior quadrants with respect to only 6 in the inferior quadrants (p = 0.006). There was a higher incidence of retinal tears in the pre with respect to post-equatorial areas (19 vs 7 eyes, p = 0.019). B-scan ultrasonography and OCT revealed persistent traction on the retinal tear flap in 19 and 15 eyes, respectively.
    Conclusions: In acute PVD, retinal tears are prevalently associated with peripheral vitreous detachment. The impact of complete or incomplete PVD can be of clinical value when evaluating patients with retinal tears.
    Mesh-Begriff(e) Acute Disease ; Aged ; Female ; Humans ; Male ; Middle Aged ; Ophthalmoscopy/methods ; Retinal Perforations/diagnostic imaging ; Retinal Perforations/pathology ; Tomography, Optical Coherence/methods ; Ultrasonography/methods ; Vitreous Detachment/diagnostic imaging ; Vitreous Detachment/pathology
    Sprache Englisch
    Erscheinungsdatum 2016-05-23
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 2050436-6
    ISSN 1471-2415 ; 1471-2415
    ISSN (online) 1471-2415
    ISSN 1471-2415
    DOI 10.1186/s12886-016-0242-0
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

    Volltext online

    Zusatzmaterialien

    Kategorien

    Über subito bestellen

    Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.

Zum Seitenanfang