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1.
Procedia Comput Sci ; 207: 3130-3139, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36275384

RESUMO

Rising unemployment is one of the consequences of the COVID-19 pandemic in many countries. This, in turn, has forced policymakers to respond immediately with policy tools to minimize unemployment. The purpose of our study is to contribute to empirical knowledge by looking at activities of 40 local government units to counteract unemployment in the cross-border region on the Polish side. In doing this, our study contributes to the efforts to manage unemployment in times of COVID-19 and other crisis situations. The results show that most of the rural and rural-urban communes did not undertake diagnostic activities that would allow one to identify the economic sectors most affected by changes related to the COVID-19 pandemic, e.g., reduction in the number of employees, suspension, or liquidation of activities. According to LGUs surveyed, companies operating in rural-urban communes applied much more frequently for support for job protection in connection with the COVID-19 pandemic than companies located in rural communes. The COVID-19 pandemic demonstrated the crucial role of LGUs in overcoming its impacts. The empirical results of this study (in-depth interviews) indicate that policy makers should pay more attention to consolidating or strengthening the role of LGUs in national disaster management and provide them with the competencies and resources necessary to deal with emergencies (in particular, they concern strengthening cooperation and coordination with other levels of government, effective communication and sharing of good practices also in cross-border areas). It would strengthen decision support systems (DSS) in the regions.

2.
Br J Cancer ; 125(4): 569-575, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34006922

RESUMO

BACKGROUND: The objective of this study was to establish the contribution of PALB2 mutations to prostate cancer risk and to estimate survival among PALB2 carriers. METHODS: We genotyped 5472 unselected men with prostate cancer and 8016 controls for two Polish founder variants of PALB2 (c.509_510delGA and c.172_175delTTGT). In patients with prostate cancer, the survival of carriers of a PALB2 mutation was compared to that of non-carriers. RESULTS: A PALB2 mutation was found in 0.29% of cases and 0.21% of controls (odds ratio (OR) = 1.38; 95% confidence interval (CI) 0.70-2.73; p = 0.45). PALB2 mutation carriers were more commonly diagnosed with aggressive cancers of high (8-10) Gleason score than non-carriers (64.3 vs 18.1%, p < 0.0001). The OR for high-grade prostate cancer was 8.05 (95% CI 3.57-18.15, p < 0.0001). After a median follow-up of 102 months, the age-adjusted hazard ratio for all-cause mortality associated with a PALB2 mutation was 2.52 (95% CI 1.40-4.54; p = 0.0023). The actuarial 5-year survival was 42% for PALB2 carriers and was 72% for non-carriers (p = 0.006). CONCLUSION: In Poland, PALB2 mutations predispose to an aggressive and lethal form of prostate cancer.


Assuntos
Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Mutação , Neoplasias da Próstata/patologia , Análise de Sequência de DNA/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Polônia , Neoplasias da Próstata/genética , Análise de Sobrevida
3.
Int J Cancer ; 147(10): 2793-2800, 2020 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-32875559

RESUMO

In designing national strategies for genetic testing, it is important to define the full spectrum of pathogenic mutations in prostate cancer (PCa) susceptibility genes. To investigate the frequency of mutations in PCa susceptibility genes in Polish familial PCa cases and to estimate gene-related PCa risks and probability of aggressive disease, we analyzed the coding regions of 14 genes by exome sequencing in 390 men with familial prostate cancer and 308 cancer-free controls. We compared the mutation frequencies between PCa cases and controls. We also compared clinical characteristics of prostate cancers between mutation carriers and noncarriers. Of the 390 PCa cases, 76 men (19.5%) carried a mutation in BRCA1, BRCA2, NBN, ATM, CHEK2, HOXB13, MSH2 or MSH6 genes. No mutations were found in BRIP1, PTEN, TP53, MLH1, PMS2 and SPOP. Significant associations with familial PCa risk were observed for CHEK2, NBN, ATM, and HOXB13. High-grade (Gleason 8-10) tumors were seen in 56% of BRCA2, NBN or ATM carriers, compared to 21% of patients who tested negative for mutations in these genes (OR = 4.7, 95% CI 2.0-10.7, P = .0003). In summary, approximately 20% of familial prostate cancer cases in Poland can be attributed to mutations in eight susceptibility genes. Carriers of mutations in BRCA2, NBN and ATM develop aggressive disease and may benefit from intensified screening and/or chemotherapy.


Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/genética , Proteína BRCA2/genética , Proteínas de Ciclo Celular/genética , Mutação , Proteínas Nucleares/genética , Neoplasias da Próstata/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Linhagem , Polônia , Neoplasias da Próstata/genética , Sequenciamento do Exoma
4.
Cancers (Basel) ; 11(10)2019 Oct 13.
Artigo em Inglês | MEDLINE | ID: mdl-31614901

RESUMO

Bloom Syndrome is a rare recessive disease which includes a susceptibility to various cancers. It is caused by homozygous mutations of the BLM gene. To investigate whether heterozygous carriers of a BLM mutation are predisposed to breast cancer, we sequenced BLM in 617 patients from Polish families with a strong family history of breast cancer. We detected a founder mutation (c.1642C>T, p.Gln548Ter) in 3 of the 617 breast cancer patients (0.49%) who were sequenced. Then, we genotyped 14,804 unselected breast cancer cases and 4698 cancer-free women for the founder mutation. It was identified in 82 of 14,804 (0.55%) unselected cases and in 26 of 4698 (0.55%) controls (OR = 1.0; 95%CI 0.6-1.6). Clinical characteristics of breast cancers in the BLM mutation carriers and non-carriers were similar. Loss of the wild-type BLM allele was not detected in cancers from the BLM mutation carriers. No cancer type was more common in the relatives of mutation carriers compared to relatives of non-carriers. The BLM founder mutation p.Gln548Ter, which in a homozygous state is a cause of Bloom syndrome, does not appear to predispose to breast cancer in a heterozygous state. The finding casts doubt on the designation of BLM as an autosomal dominant breast cancer susceptibility gene.

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