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Abstract: In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods. All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results. Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions. The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.
Keywords: ovarian cancer, BRCA 1/2, genetic counseling
Published in DiRROS: 24.05.2024; Views: 100; Downloads: 45
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Abstract: Background. The purpose of the study was to evaluate the ability of ultrasound(US) and fine needle aspiration biopsy (FNAB) in reducing the numberof melanoma patients requiring a sentinel node biopsy (SNB); to compare the amount of metastatic disease in regional lymph nodes in SNB candidates with clinically uninvolved lymph nodes and of those with US uninvolved lymph nodes; and to compare the overall survival (OS) of both groups. Methods. Between 2000 and 2007, a SNB was successfully performed in 707 patients with melanoma. The preoperative US of the regional lymph node basins was performed in 405 SNB candidates. In 14 of these patients, the US-guided FNAB was positive and they proceeded directly to lymph node dissection. In 391 patients, the preoperative US was either negative (343 patients) or suspicious(48 patients) (US group). In the remaining 316 patients the preoperative US was not performed (non-US group). Results. The proportion of macrometastatic sentinel lymph nodes (SN), number of metastatic lymph nodes per patient and proportion of nonsentinel lymph node metastases were found to be lower in the US group compared to the non-US group. The smaller tumour burden of the US group was reflected in a significantly better OS of patients with SN metastases. Conclusions. The preoperative US of regional lymph nodes spares some patients with melanoma from undergoing a SNB. Patients with regional metastases and a negative preoperative US have a significantly lower tumour burden in comparison to those with clinically negative lymph nodes, which is also reflected in a better OS.
Published in DiRROS: 22.03.2024; Views: 340; Downloads: 419
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Abstract: Background. Transient hypocalcemia is the most common complication after thyroidectomy. Normomagnesemia is needed for normal secretion of PTH and end-organ responsiveness. Our aim was to determine the influence of infusion of magnesium sulphate before thyroidectomy on the incidence of laboratory and clinical transient hypocalcemia. Methods. In our prospective study, 48 patients (5 men, 43 women; age 22-73 years, median 45 years), who underwent total or near-total thyroidectomy, were randomised preoperatively. Half of them received intravenously 4 ml of 1M magnesium sulphate at the beginning of the surgical procedure, the other half were the control group. Serum concentrations of calcium, ionised calcium, magnesium, phosphate, albumin and PTH were measured prior to surgery and on the first day after surgery. Results. Laboratory postoperative hypocalcemia was present in 27% of patients and 23% of patients had clinical signs and/or symptoms of postoperative hypocalcemia. The concentration of total calcium (p=0.024) and of albumin (p=0.01) was lower in the group that received magnesium sulphate. Conclusions.The patients who received infusion of magnesium sulphate before total thyroidectomy had lower concentration of total serum calcium and albuminin comparison to the control group. There was no statistical differencein the incidence of clinical transient hypocalcemia.
Published in DiRROS: 08.03.2024; Views: 175; Downloads: 42
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Published in DiRROS: 25.01.2024; Views: 193; Downloads: 48
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Published in DiRROS: 06.12.2023; Views: 219; Downloads: 57
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