Time filter

Source Type

Zahavi A.,Rabin Medical Center | Zahavi A.,Tel Aviv University | Luckman J.,Rabin Medical Center | Yassur I.,Rabin Medical Center | And 3 more authors.
Graefe's Archive for Clinical and Experimental Ophthalmology | Year: 2016

Purpose: Falls from heights are the most common traumatic event associated with emergency department visits in children. This study investigated the incidence and clinical course of cranial neuropathies caused by falls from heights in children. Methods: The computerized records of a tertiary pediatric medical center were searched for all patients admitted to the emergency department in 2004–2014 with a head injury caused by falling from a height. Those with cranial neuropathies involving optic and eye-motility disturbances were identified, and their clinical, imaging, and outcome data were evaluated. Results: Of the estimated 61,968 patients who presented to the emergency department during the study period because of a fall, 18,758 (30.3 %) had head trauma. Only 12 (seven boys, five girls, average age 6.7 years) had a visual disturbance. Eight were diagnosed with traumatic optic neuropathy, one after a 6-month delay, including two with accompanying cranial nerve (CN) III injuries. Five patients had anisocoria or an abnormal pupillary response to light at presentation, one patient had CN VI paralysis and temporary vision loss, and one patient had an isolated CN III injury diagnosed on follow-up. Visual improvement varied among the patients. Conclusion: Cranial neuropathies due to falls from heights are rare in children and are associated with high visual morbidity. Vision or ocular motility impairment, especially monocular vision loss, may be missed during acute intake to the emergency department, and a high index of suspicion is needed. Assessment of the pupillary response to light is essential. © 2015, Springer-Verlag Berlin Heidelberg. Source

Dratviman-Storobinsky O.,The Krieger Eye Research Laboratory | Cohen Y.,Sheba Cancer Research Center | Frenkel S.,Hebrew University of Jerusalem | Pe'er J.,Hebrew University of Jerusalem | And 3 more authors.
Investigative Ophthalmology and Visual Science | Year: 2010

PURPOSE. Somatic mutations in codon 209 of the GNAQ gene are the first initiating events to be identified in uveal melanoma. The purpose of this study was to search for GNAQ209 mutations in conjunctival melanocytic lesions. METHODS. Forty archival samples of conjunctival melanocytic lesions (conjunctival nevi, primary acquired melanosis, and conjunctival melanoma), 27 samples of uveal melanoma, and 11 samples of uveal melanoma metastases to the liver (3 of which matched primary uveal melanoma samples)-a total of 78 samples from 75 patients- were examined for the presence of GNAQ209 mutations by using chip-based, matrix-assisted laser-desorption time-of-flight (MALDI-TOF) mass spectrometry. Direct sequencing was also performed. RESULTS. The GNAQ209 mutation was identified in 12 (44.5%) uveal melanoma samples and 4 (36.5%) of the 11 metastases of uveal melanoma. It was not detected in any of the other melanocytic lesions. CONCLUSIONS. The GNAQ209 mutation rate in uveal melanoma in this study is in line with the rate in other reports. The finding of the same genotype in the primary tumors and their metastases suggests that mutation in GNAQ is an early event in uveal melanoma tumorigenesis. The lack of GNAQ mutations in conjunctival melanocytic lesions suggests the involvement of a different tumorigenic pathway from that of uveal melanoma. © Association for Research in Vision and Ophthalmology. Source

Goldenberg-Cohen N.,The Krieger Eye Research Laboratory | Goldenberg-Cohen N.,Pediatric Unit | Goldenberg-Cohen N.,Tel Aviv University | Avraham-Lubin B.C.R.,The Krieger Eye Research Laboratory | And 7 more authors.
International Journal of Genetics and Molecular Biology | Year: 2010

DNase II like acid DNase (DNase IIβ, DLAD) is expressed in human and murine cells in the lens. Studies in mice have reported that abnormal degeneration of cellular organelles by DLAD reduced lens transparency and that the DLAD gene may be involved in cataract formation. The aim of the present study was to search for possible genetic alterations in the DLAD gene in human senile cataract. Anterior lens capsule material was collected during surgery from 55 patients with senile cataract, with or without a subcapsular component. Total DNA was extracted, amplified by polymerase chain reaction and sequenced for exon 3 (n = 51) exon 4 (n = 40) and all 6 exons of the DLAD gene (n = 27). No mutation was found. There were genomic polymorphisms in all exons except 3 and 4. Nonsynonymous genomic polymorphisms were detected in exon 1 (rs738573) and exon 2 (rs3754274) and synonymous polymorphisms were detected in exon 5 (rs7511984) and exon 6 (rs3768250). In contrast to findings in mice, based on the limited samples analyzed, this study suggests that human age-related nuclear cataract is not associated with DLAD mutations. © 2010 Academic Journals. Source

Sadikov T.,The Krieger Eye Research Laboratory | Sadikov T.,Tel Aviv University | Simon A.J.,Sheba Cancer Research Center | Avraham-Lubin B.C.R.,The Krieger Eye Research Laboratory | And 7 more authors.
Neurobiology of Aging | Year: 2012

Mutations in the LMNA gene encoding lamins A/C are responsible for Hutchinson-Gilford syndrome (HGS), a disorder of premature aging. Cataract is 1 of the main manifestations. The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein. The purpose of this study was to investigate a possible association of the C1824T mutation with age-related cataract. Anterior lens capsule material was collected during cataract extraction surgery from 178 patients with senile cataract during 2007-2008. DNA and mRNA were extracted and sequenced for the LMNA gene. DNA and cDNA were screened for the C1824T mutation, which was not detected. Messenger RNA (mRNA) expression was normal, with no truncation. We found that human age-related nuclear cataract is not associated with LMNA gene mutations or truncation of lamin A. © 2012 Elsevier Inc. Source

Avraham-Lubin B.-C.R.,The Krieger Eye Research Laboratory | Avraham-Lubin B.-C.R.,Tel Aviv University | Dratviman-Storobinsky O.,The Krieger Eye Research Laboratory | Dadon-Bar El S.,The Krieger Eye Research Laboratory | And 5 more authors.
Frontiers in Neurology | Year: 2011

The study investigated the therapeutic effect of hyperbaric oxygen (HBO) on anterior ischemic optic neuropathy in a rodent model (rAION). rAION was laser-induced in one eye of 63 mice. The fellow (uninjured) eye served as an internal control.Thirty-three mice under-went two 90-min sessions of 100% oxygen (2 atm) treatment immediately following injury and one session daily thereafter for up to 14 days. The remaining mice were untreated. Retinas were harvested at different time points, and mRNA levels of various genes were analyzed by real-time polymerase chain reaction and histologic study. Untreated mice: day 1 post-rAION - SOD-1 (oxidative-stress-related) decreased to 82% of control (uninjured eye) levels (P< 0.05), Caspase-3 (proapoptotic) decreased to 89%, Bcl-xL mildly increased (117%; all NS); day 3 - HO-1 and endothelial nitric oxide synthase (eNOS; ischaemia-related) decreased to 74%, and Bcl-2-associated X protein, Caspase-3, and B-cell lymphoma 2 (Bcl-2; apoptotic) increased by 170, 120, and 111%, respectively (all NS); day 21 - HO-1 increased to 222% (NS) and eNOS decreased to 48% (P< 0.05).Treated mice: day 1 - SOD-1 and Caspase-3 remained unchanged, Bcl-2 and Bcl-xL mildly increased (112 and 126% respectively); day3-HO-1 and eNOS increased, apoptosis-related gene decreased; day 21 - SOD-1 decreased whereas eNOS increased (P< 0.05), and HO-1 increased to a lesser degree than without treatment. None of the oxygen-treated animals had retinal ganglion cell loss or a decrease inThy-1 expression. In conclusion, HBO treatment after rAION induction influences the expression of apoptosis-related genes as well as oxidative-stress-induced and ischaemia-related genes and may exert a neuroprotective effect. © 2011 Avraham-Lubin, Dratviman-Storobinsky, El, Hasan-reisoglu and Goldenberg-Cohen. Source

Discover hidden collaborations