The effect of various media and probe angles on the power output of the Cyclo G6 Glaucoma Laser System

Lasers in Medical Science - To evaluate the effect of various media and Iridex MicroPulse P3 (MP3) probe angles on the power output from the Cyclo G6 Glaucoma Laser (G6) System. A laser power meter...     

Carboplatin-based chemotherapy for refractory and recurrent Ewing's tumours

BACKGROUND: Failure of first line therapy for the Ewing's family of tumours (EFT) is associated with a very poor outlook. Studies of second line chemotherapy are therefore necessary to identify active agents and drug combinations. Cisplatin-based therapy is frequently used in these circumstances but there are few studies to clearly define activity and toxicity. This report details outcome in a cohort of patients with poor risk EFT treated with a carboplatin-based combination. PROCEDURE: Between 1990 and 1998, 23 males and 16 females aged between 6 and 48 years (median 23) with relapsed or refractory EFT were treated with carboplatin-based chemotherapy. Previous chemotherapy had included ifosfamide and doxorubicin in all but two patients. Twenty patients were treated at the time of recurrence, and 19 after a poor response to initial chemotherapy. Treatment comprised of carboplatin to give an area under the plasma carboplatin concentration versus time curve of (AUC) 6 mg/ml, etoposide 120 mg/m2 for 3 days, and cyclophosphamide 500-750 mg/m2 for 2 days, repeated every 21 days. RESULTS: A total of 105 cycles were given, median 2 per patient (range 1-5). Overall response was 26%, with one complete response and nine partial responses. Median time to progression was 10 weeks (range 2-54). Haematological toxicity was severe requiring dose reductions in 53% of patients. Six patients proceeded to high dose consolidation treatment with bone marrow or peripheral stem cell rescue. CONCLUSIONS: This combination results in a substantial response rate in previously treated patients but with significant toxicity. Responses are, however, relatively short.     

Comparison of success rate and intraocular pressure spikes between selective laser trabeculoplasty and micropulse laser trabeculoplasty in African American and Hispanic patients

AIM: To examine the efficacy and safety of micropulse laser trabeculoplasty (MLT) versus selective laser trabeculoplasty (SLT) in a large cohort of primarily African American and Hispanic patients. METHODS: A single center retrospective comparative cohort review conducted at Cook County Health facilities that included patients with a diagnosis of open angle glaucoma or ocular hypertension who received an SLT or MLT procedure between January 2017 and May 2021. RESULTS: Totally 131 eyes of 99 patients were analyzed. The 77 eyes received SLT and 54 received MLT. Seven out of 77 eyes in the SLT group (9.1%) and 1 out of 54 eyes in the MLT group (1.9%) had an IOP spike (defined as > 5 mm Hg) at either 1h or 1wk after procedure (P=0.05, Chi-squared test with Haldane-Anscombe correction). The procedure failure rate at one year was 50% for SLT and 48% for MLT (P=0.31). CONCLUSION: MLT has a significantly lower incidence of pressure spikes and a similar treatment failure rate at 1-year post-procedure, demonstrating that it is a reasonable alternative compared to SLT.     

BRCA1 and BRCA2 mutation testing in Cyprus; a population based study

This paper presents the largest study in Cyprus evaluating the frequency and distribution of BRCA1/2 mutations in a high risk patient cohort. Deleterious mutations in the BRCA1/2 genes were identified in 68 of the 527 patients tested (13%). It is of interest that a quarter of those tested positive, did not have an extensive family history of breast/ovarian cancer but were diagnosed with early onset breast cancer, ovarian cancer under the age of 60 or triple negative breast cancer. The spectrum of mutations identified in our patient cohort is different compared to other Mediterranean countries. Furthermore, several of the mutations detected are novel and have not been identified in other ethnic populations. This highlights the importance of operating a national reference center for cancer genetic diagnosis which offers services tailored to the needs of the Cypriot population.     

Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population

Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified, which modify the DNA repair capacity, which in turn may affect the risk of developing breast cancer. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 62 SNPs in 29 genes in 1,109 Cypriot women with breast cancer and 1,177 age-matched healthy controls. Five SNPs were associated with breast cancer. SNPs rs13312840 and rs769416 in the NBS1 gene were associated with a decrease in breast cancer risk (OR TT vs. TC/CC = 0.58; 95% CI, 0.37–0.92; P = 0.019 and OR GG vs. GT/TT = 0.23, 95% CI 0.06–0.85, P = 0.017, respectively). The variant allele of MRE11A rs556477 was also associated with a reduced risk of developing the disease (OR AA vs. AG/GG = 0.76; 95% CI, 0.64–0.91; P = 0.0022). MUS81 rs545500 and PBOV1 rs6927706 SNPs were associated with an increased risk of developing breast cancer (OR GG vs. GC/CC = 1.21, 95% CI, 1.02–1.45; P = 0.031; OR AA vs. AG/GG = 1.53, 95% CI, 1.07–2.18; P = 0.019, respectively). Finally, haplotype-based tests identified significant associations between specific haplotypes in MRE11A and NBS1 genes and breast cancer risk. Further large-scale studies are needed to confirm these results.     

Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus

Population-based studies have reported significant associations between specific genetic polymorphisms and breast cancer susceptibility. A number of studies have demonstrated that common variants of genes involved in the DNA repair pathway act as low penetrance breast cancer susceptibility alleles. We aimed to investigate the association of single nucleotide polymorphisms (SNPs) in the DNA repair genes XRCC1, XRCC2 and XRCC3 and breast cancer in MASTOS, a population-based case–control study of 1,109 Cypriot women with breast cancer diagnosed between 40 and 70 years and 1,177 age-matched healthy controls. Five coding SNPs were genotyped including rs1799782, rs25489 and rs25487 in XRCC1, rs3218536 in XRCC2 and rs861539 in XRCC3. Homozygous XRCC1 280His carriers had an increased risk of breast cancer (odds ratio 4.68; 95% CI 1.01–21.7; P = 0.03). The XRCC2 188His allele was associated with a marginal protective effect for breast cancer (odds ratio 0.79; 95% CI 0.62–1.00; P = 0.05). No significant associations were observed between the other three SNPs and breast cancer. This study suggests that genetic variation in SNPs in XRCC1 and XRCC2 genes may influence breast cancer susceptibility.     

Multi-focal, multi-centric angiosarcoma of bone

A multi-focal multi-centric, malignant tumour of vascular origin arising in bone in a 55-year-old man is described. The presenting symptoms were pain and weight loss. Radiologically, multiple lytic lesions were demonstrated in the long bones of both legs and throughout the pelvis. Histological examination demonstrated an angiosarcoma which was predominantly low grade in nature but with focal areas of intermediate grade. Turnout cells expressed the endothelial markers CD31, CD34 and von Willebrand's factor. There was rapid radiological progression of disease with no response to radiotherapy. Pain abated within a few days of institution of doxorubicin, 75 mg m(-2), but the patient died of massive pulmonary thromboembolism 14 days later, 11 months after the first symptoms.     

DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus

The DNA repair pathway is known to play a role in the etiology of breast cancer. A number of studies have demonstrated that common germline variants in genes involved in the DNA repair pathway influence breast cancer risk. To assess whether alterations in DNA repair genes contribute to breast cancer, we genotyped 12 single nucleotide polymorphisms (SNPs) in 1,109 Cypriot women with breast cancer and 1,177 age-matched healthy controls. We found significant associations with breast cancer for SNPs in the BRCA2 and MRE11A genes. Carriers of the BRCA2 rs1799944 variant (991 Asp) were found to have an increased risk of breast cancer (OR = 1.41, 95% CI 1.08–1.83, P = 0.01) with P _trend = 0.0076. Homozygous carriers of the MRE11A rs601341 A allele had an increased risk of breast cancer (OR = 1.36, 95% CI 1.08–1.71, P = 0.009) with P _trend = 0.0087. This study suggests that genetic variants in BRCA2 and MRE11A are associated with breast cancer risk.