It has been suggested that selenium deficiency is a risk factor for several cancer types. We conducted a case-control study in Szczecin, a region of northwestern Poland, on 95 cases of lung cancer, ...113 cases of laryngeal cancer and corresponding healthy controls.
We measured the serum level of selenium and established genotypes for four variants in four selenoprotein genes (GPX1, GPX4, TXNRD2 and SEP15). Selenium levels in the cases were measured after diagnosis but before treatment. We calculated the odds of being diagnosed with lung or laryngeal cancer, conditional on selenium level and genotype.
Among lung cancer cases, the mean selenium level was 63.2 µg/l, compared to a mean level of 74.6 µg/l for their matched controls (p<0.0001). Among laryngeal cancer cases, the mean selenium level was 64.8 µg/l, compared to a mean level of 77.1 µg/l for their matched controls (p<0.0001). Compared to a serum selenium value below 60 µg/l, a selenium level above 80 µg/l was associated with an odds ratio of 0.10 (95% CI 0.03 to 0.34; p = 0.0002) for lung cancer and 0.23 (95% CI 0. 09 to 0.56; p = 0.001) for laryngeal cancer. In analysis of four selenoprotein genes we found a modest evidence of association of genetic variant in GPX1 with the risk of lung and laryngeal cancers.
A selenium level below 60 µg/l is associated with a high risk of both lung and laryngeal cancer.
To investigate spectrum of patients with Von Hippel-Lindau disease (VHL) that required pars plana vitrectomy and evaluate anatomical and functional outcomes of surgery.
Twenty-three patients who ...underwent surgery for advanced VHL eye disease were assessed by genetic tests, diagnostic tests for systemic lesions, and clinical eye examination. The vitrectomized eyes were divided into two groups: with or without retinotomy (group R vs. NR). Functional and anatomical outcome was analyzed and compared between the groups.
All patients had central nervous system hemangioblastomas and 57% had other systemic tumors. Point germline mutations, large partial deletions, and complete vhl gene deletions were found in 64%, 27%, and 9% of patients, accordingly. Destruction of hemangioblastomas by retinotomy, laser, or cryotherapy and anatomical attachment of the retina were achieved in all eyes. Preoperative mean distance best-corrected visual acuity was logarithm of the minimum angle of resolution 2.66 (20/9,140) in group R and 1.76 (20/1,150) in group NR (P < 0.05). At 6 months postoperatively, distance best-corrected visual acuity improved in 20 eyes (83%). After over 24 months postoperatively, distance best-corrected visual acuity remained better than preoperatively in 36% in the R group and in 70% in the NR group of eyes. During 24 months postoperatively in 17 eyes, new retinal capillary hemangiomas developed. The mean number of new retinal capillary hemangiomas per eye was higher in group R than in group NR (3.14 vs. 0.70; P < 0.01). In group R, number of new retinal capillary hemangioblastoma was higher in retinal segments where retinotomy was performed (n = 29) than in other areas (n = 13) (P < 0.01).
Advanced VHL eye disease correlates with occurrence of central nervous system and systemic lesions. Spectrum of vhl gene mutation in the patients corresponds to that of the general VHL population. Pars plana vitrectomy in advanced VHL eye disease can improve or preserve visual function, but postoperative progression of ocular VHL disease can be accelerated in cases where retinotomy is performed.
Purpose
To evaluate macular function and structure before and after epimacular membrane surgery and to estimate the usefulness of pattern ERG test parameters in predicting the postoperative visual ...acuity.
Methods
We evaluated 32 eyes of 32 patients (mean age 70.8 ± 6.7 years) before and 12 months after successful 25G pars plana vitrectomy with epimacular membrane removal and internal limiting membrane peeling. Distance best-corrected visual acuity (DBCVA—logMAR), foveal thickness (optical coherence tomography—OCT) and macular function pattern electroretinogram—PERG (ISCEV standard): amplitudes (A) of P50- and N95-waves, implicit time (IT) of P50-wave were assessed. To estimate the differences between the mean values of considered characteristics, the t test or Wilcoxon matched pair test was used. Correlation between preoperative data of PERG and preoperative and final DBCVA were investigated using Pearson correlation analysis. A receiver operating characteristic curve was constructed to obtain a cutoff value allowing prediction of visual prognosis. We tried to obtain the P50 and N95 amplitudes cutoff value in prediction of good visual outcome (DBCVA of 0.3 or less).
Results
Twelve months after surgery, mean of DBCVA significantly increased in comparison with preoperative value (0.31 ± 0.12 vs. 0.6 ± 0.15;
p
< 0.001) and 23/32 eyes (72 %) achieved visual improvement of two and more Snellen lines. In OCT test, the significant reduction in foveal thickness mean (313.34 ± 47.01 vs. 509.03 ± 93.88 µm;
p
< 0.001) was obtained. In PERG test, the significant increase in the mean amplitudes of P50- (AP50) and N95 (AN95)-waves as well as significant decrease in the mean implicit time (IT) of P50-wave were achieved (AP50: 3.41 ± 1.48 vs. 2.38 ± 1.23 µV;
p
< 0.001; AN95: 5.46 ± 1.72 vs. 3.75 ± 1.48 µV;
p
< 0.001; IT P50: 55.00 ± 3.60 vs. 56.75 ± 5.78 ms;
p
< 0.001). Twelve months postoperatively, DBCVA was significantly correlated with preoperative IT P50 (
r
= 0.39;
p
= 0.027), AP50 (
r
= −0.68;
p
< 0.001) and AN95 (
r
= −0.73;
p
< 0.001).
Conclusion
Removal of idiopathic epimacular membranes with internal limiting membrane peeling not only provided increase in visual acuity and reduction in foveal thickness but also caused improvement of innermost retinal layer function in macular region. Pattern ERG test might be a valuable tool in predicting the postoperative visual acuity.
Tersone syndrome was first described in 1900 as haemorrhages in the eye that occur as a consequence of intracranial hemorrhage. The main cause of the syndrome in adults is a subarachnoid hemorrhage ...following the rupture of intracranial aneurysm. The pathogenesis has not been fully understood. It is believed that the increase of intracranial pressure results in the hemodynamic changes in ocular vessels. Reported symptoms include decrease of visual acuity following generalized symptoms such as headache, loss of consciousness and meningealsigns. Physical examination usually reveals vitreous hemorrhage (classic Terson's syndrome) and other forms of intraocular hemorrhage. The authors reviewed the available literature on the Terson's Syndrome. Clinical presentation, pathogenesis, diagnosis, and available treatment options are presented and discussed, considering the rare occurrence of this disease.
This publication summarizes recent progress in DNA testing of genes related to high predisposition to malignancies achieved by Hereditary Cancer Center in Szczecin, Poland.
Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a ...presentation of the disease can be different. To investigate whether large VHL deletions that remove the FANCD2 gene have an effect on the disease phenotype, we studied a family with a 50 kb large deletion encompassing these two genes. Four patients in this family were affected by VHL-related lesions. However one carrier of the deletion also had bilateral ductal breast cancer at age 46 and 49. Both tumors were of ~2 cm in diameter. On one side lymph nodes were affected. One tumor was ER- and PR-negative (HER2 s unknown) and the second was ER- and PR-positive, and HER2-negative. Our study suggests that a deletion of FANCD2 gene, an important gene in the DNA repair pathway, may be associated with an increased risk of breast cancer, but further studies are needed in this regard.
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