Contribution in the research about Neurofibromatosis

Doctoral Dissertation uoadl:3398662 20 Read counter

Unit:
Faculty of Medicine
Library of the School of Health Sciences
Deposit date:
2024-05-15
Year:
2024
Author:
Florou Chrysoula
Dissertation committee:
Δημήτριος Παπακωνσταντίνου, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ηλίας Γεωργάλας, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Κυμιωνής, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Κλειώ Χατζηστεφάνου, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Κωνσταντίνος Δρούτσας, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Πέτρος Πέτρου, Επίκουρος Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Ειρήνη Χατζηράλλη, Επίκουρη Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
Συμβολή στην έρευνα για την Νευροϊνωμάτωση
Languages:
Greek
Translated title:
Contribution in the research about Neurofibromatosis
Summary:
Purpose: The aim of this study was to evaluate the morphological properties of corneal endothelial cells and central corneal thickness (CCT) i

ith neurofibromatosis type 1 (NF1) and to compare them with agematched healthy controls.

Methods: Nineteen NF1 patients and 38 healthy individuals were recruited. All participants underwent complete ophthalmological examination as well as noncontact specular microscopy to measure endothelial cell density (ECD), average cell area (AVG), coefficient of variation of cell area (CV), the percentage of hexagonal cells, and CCT. Eyes with previous ocular trauma, inflammation or surgery, and preexisting corneal and ocular surface diseases were excluded.

Results: NF1 patients had higher ECD compared to healthy controls of the same age (2764.2 ± 270.4 versus 2570.4 ± 449.2 cells/mm2, respectively), although at a borderline level (P = 0.051). Patients with NF1 presented significantly lower CV and AVG when compared to controls (32.9 ± 4.6 versus 37.8 ± 9.5%, P = 0.011 and 364.9 ± 34.4 versus 406.0 ± 107.4 µm2 , P = 0.038, respectively). The NF1 group had significantly higher hexagonality in comparison with controls (55.7 ± 6.5 versus 50.5 ± 9.9%, P = 0.025). CCT was similar between the two groups (P = 0.955). Conclusion: Our results show that corneal endothelium has more favorable morphological characteristics in NF1 patients compared to healthy individuals of the same age.

We also presented a case of painless bulbar conjunctival mass due to B-cell non-Hodgkin lymphoma (NHL), without systemic involvement, in a 76-year-old man. Following an excision biopsy, histopathologic examination and immunohistochemistry confirmed the diagnosis, prompting a referral for hemato-oncological assessment. The patient underwent comprehensive laboratory and imaging scans, subsequently receiving combined chemo-immunotherapy that resulted in complete remission to date. This case is reported as it is crucial to recognize that a conjunctival insult might emerge in neurofibromatosis type 1 (NF1) patients.
Main subject category:
Health Sciences
Keywords:
Neurofibromatosis, MALT lymphoma, corneal endothelium
Index:
No
Number of index pages:
0
Contains images:
Yes
Number of references:
142
Number of pages:
74
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