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1.
Br J Surg ; 108(11): 1315-1322, 2021 11 11.
Artigo em Inglês | MEDLINE | ID: mdl-34467970

RESUMO

BACKGROUND: There is a lack of information regarding the provision of parental leave for surgical careers. This survey study aims to evaluate the experience of maternity/paternity leave and views on work-life balance globally. METHODS: A 55-item online survey in 24 languages was distributed via social media as per CHERRIES guideline from February to March 2020. It explored parental leave entitlements, attitude towards leave taking, financial impact, time spent with children and compatibility of parenthood with surgical career. RESULTS: Of the 1393 (male : female, 514 : 829) respondents from 65 countries, there were 479 medical students, 349 surgical trainees and 513 consultants. Consultants had less than the recommended duration of maternity leave (43.8 versus 29.1 per cent), no paid maternity (8.3 versus 3.2 per cent) or paternity leave (19.3 versus 11.0 per cent) compared with trainees. Females were less likely to have children than males (36.8 versus 45.6 per cent, P = 0.010) and were more often told surgery is incompatible with parenthood (80.2 versus 59.5 per cent, P < 0.001). Males spent less than 20 per cent of their salary on childcare and fewer than 30 hours/week with their children. More than half (59.2 per cent) of medical students did not believe a surgical career allowed work-life balance. CONCLUSION: Surgeons across the globe had inadequate parental leave. Significant gender disparity was seen in multiple aspects.


Assuntos
Escolha da Profissão , Internato e Residência/estatística & dados numéricos , Licença Parental/estatística & dados numéricos , Estudantes de Medicina/estatística & dados numéricos , Cirurgiões/estatística & dados numéricos , Inquéritos e Questionários , Adulto , Atitude do Pessoal de Saúde , Feminino , Humanos , Masculino , Fatores Sexuais , Adulto Jovem
3.
J Med Genet ; 43(5): e18, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16648371

RESUMO

BACKGROUND: LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The existence of a second PJS locus is controversial, the evidence in its favour being families unlinked to LKB1 and the low frequency of LKB1 mutations found using conventional methods in several studies. Exonic and whole gene deletion or duplication events cannot be detected by routine mutation screening methods. OBJECTIVE: To seek evidence for LKB1 germline deletions or duplications by screening patients meeting clinical criteria for PJS but without detected mutations on conventional screening. METHODS: From an original cohort of 76 patients, 48 were found to have a germline mutation by direct sequencing; the remaining 28 were examined using multiplex ligation dependent probe amplification (MLPA) analysis to detect LKB1 copy number changes. RESULTS: Deletions were found in 11 of the 28 patients (39%)--that is, 14% of all PJS patients (11/76). Five patients had whole gene deletions, two had the promoter and exon 1 deleted, and in one patient exon 8 was deleted. Other deletions events involved: loss of exons 2-10; deletion of the promoter and exons 1-3; and loss of part of the promoter. No duplications were detected. Nine samples with deletions were sequenced at reported single nucleotide polymorphisms to exclude heterozygosity; homozygosity was found in all cases. No MLPA copy number changes were detected in 22 healthy individuals. CONCLUSIONS: These results lessen the possibility of a second PJS locus, as the detection rate of germline mutations in PJS patients was about 80% (59/76). It is suggested that MLPA, or a suitable alternative, should be used for routine genetic testing of PJS patients in clinical practice.


Assuntos
Éxons , Deleção de Genes , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinases/genética , Quinases Proteína-Quinases Ativadas por AMP , Estudos de Coortes , Análise Mutacional de DNA/métodos , Mutação em Linhagem Germinativa , Humanos , Síndrome de Peutz-Jeghers/diagnóstico
4.
J Med Genet ; 42(10): 769-73, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16199549

RESUMO

The polymorphic variants at codon 72 of the p53 gene were shown to be functionally distinct in vitro, whereby the arginine (arg) variant induces apoptosis more efficiently than the proline (pro) variant. From the evidence that the DNA mismatch repair system and p53 interact to maintain genomic integrity, we hypothesized that the codon 72 variation may influence the age of onset of disease in HNPCC patients. We tested 538 patients for p53 codon 72 variants, including 167 unrelated patients with pathogenic germline mutations in MSH2 or MLH1 and colorectal carcinoma as first tumour, 126 patients with sporadic microsatellite stable colorectal cancers, and 245 healthy controls. The median age of onset was 41, 36, and 32 years for MSH2 or MLH1 mutation carriers with arg/arg, arg/pro, and pro/pro genotypes, respectively. The log rank test revealed significant differences in the age of onset between arg/arg and pro/pro individuals (p = 0.0002) and in arg/pro versus arg/arg and pro/pro individuals (p = 0.0026 and p = 0.0217, respectively). A Cox regression model indicated an additive mode of inheritance. No significant differences in age of onset were observed among different genotype carriers with microsatellite stable tumours. Our results suggest that p53 codon 72 genotypes are associated with the age of onset of colorectal carcinoma in a mismatch repair deficient background in a dose dependent manner. These findings may be relevant for preventive strategies in HNPCC.


Assuntos
Códon , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/genética , Genes p53 , Predisposição Genética para Doença , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Proteínas de Transporte/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Proteínas Nucleares/genética
5.
Br J Cancer ; 92(6): 1126-9, 2005 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-15756273

RESUMO

Mutations in LKB1 lead to Peutz-Jeghers syndrome (PJS). However, only a subset of PJS patients harbours LKB1 mutations. We performed a mutation analysis of three genes encoding novel LKB1-interacting proteins, BRG1, STRADalpha, and MO25alpha, in 28 LKB1-negative PJS patients. No disease-causing mutations were detected in the studied genes in PJS patients from different European populations.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transporte Vesicular/genética , Mutação , Proteínas Nucleares/genética , Síndrome de Peutz-Jeghers/genética , Fatores de Transcrição/genética , DNA Helicases , Humanos , Íntrons , Polimorfismo Genético
7.
J Biochem Biophys Methods ; 47(1-2): 21-32, 2001 Jan 30.
Artigo em Inglês | MEDLINE | ID: mdl-11179758

RESUMO

Denaturing high-performance liquid chromatography (DHPLC) is an efficient method for detection of mutations involving a single or few numbers of nucleotides, and it has been successfully used for mutation detection in disease-related genes. Colorectal cancer is one of the most common cancers, and mutations in the genes for hereditary nonpolyposis colon cancer (HNPCC), hMLH1 and hMSH2, also involve mainly point mutations. Sequence analysis is supposed to be a screening method with high sensitivity; however, it is time-consuming and expensive. We therefore decided to test sensitivity and reproducibility of DHPLC for 71 sequence variants in hMLH1 and hMSH2 initially found by sequence analysis in DNA samples of German HNPCC patients. DHPLC conditions of the PCR products were based on the melting pattern of the wild-type sequence of the corresponding PCR fragments. All but one of the 71 mutations was detected using DHPLC (sensitivity of 97%). Running time per sample averaged only 7 min, and the system is highly automated. Thus DHPLC is a rapid and sensitive method for the detection of hMLH1 and hMSH2 sequence variants.


Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Neoplasias Colorretais Hereditárias sem Polipose/genética , Análise Mutacional de DNA/métodos , Proteínas de Neoplasias/genética , Oncogenes , Proteínas Adaptadoras de Transdução de Sinal , Proteínas de Transporte , Cromatografia Líquida de Alta Pressão/estatística & dados numéricos , Análise Mutacional de DNA/estatística & dados numéricos , Primers do DNA/genética , DNA de Neoplasias/genética , Éxons , Variação Genética , Humanos , Proteína 1 Homóloga a MutL , Mutação , Proteínas Nucleares , Desnaturação de Ácido Nucleico , Reação em Cadeia da Polimerase , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
8.
Cancer Res ; 57(21): 4739-43, 1997 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-9354434

RESUMO

The molecular biology section of the Hereditary Non-Polyposis Colorectal Cancer study group-Germany, instituted a multicenter study to test the reliability and quality of microsatellite instability (MSI) analysis. Eight laboratories compared MSI analyses performed on 10 matched pairs of normal and tumor DNA from patients with colorectal carcinomas. A variety of techniques were applied to the detection of microsatellite changes: (a) silver and ethidium bromide staining of polyacrylamide gels; (b) radioactive labeling; and (c) automated fluorescence detection. The identification of highly unstable tumors and tumors without MSI was achieved in high concordance. However, the interpretation of the band patterns resulted in divergent classifications at several microsatellite marker loci for a large fraction of this tumor/normal panel. The data on more than 30 primers per case suggest that the enlargement of the microsatellite panel to more than 10 loci does not influence the results. In this study, cases with MSI in less than 10% of loci were classified as microsatellite stable, whereas MSI was diagnosed in cases with more than 40% of all markers unstable. We propose that a panel of five microsatellite loci consisting of repeats with different lengths should be analyzed in an initial analysis. When less than two marker loci display shifts in the microsatellite bands from tumor DNA, the panel should be enlarged to include an additional set of five marker loci. The number of marker loci analyzed as well as the number of unstable marker loci found should always be identified. These criteria should result in reports of MSI that are more comparable between studies.


Assuntos
Neoplasias Colorretais/genética , Repetições de Microssatélites/genética , Deleção Cromossômica , Técnicas de Laboratório Clínico/normas , Neoplasias Colorretais/classificação , Técnicas Genéticas/normas , Humanos , Controle de Qualidade , Reprodutibilidade dos Testes
9.
Dis Colon Rectum ; 35(10): 1003-9, 1992 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-1395976

RESUMO

Physicians treating patients with ulcerative colitis are confronted with the difficult task of deciding whether medical or surgical treatment is best for their patients. There are no definitive criteria to indicate when medical therapy should be exchanged for definitive surgery. Even in patients who respond well to glucocorticoid treatment, the side effects of these drugs may necessitate surgery. We reviewed the steroid complications of our operative cases retrospectively. Although ulcerative colitis was usually in remission, severe steroid complications were no longer tolerable and definitive surgery was required. We also reviewed the literature regarding the adverse effects of steroid. Because of advances in sphincter-preserving surgery, re-evaluation of the treatment of ulcerative colitis is necessary. Although conservative treatment remains the first choice, tolerance of irreversible side effects (especially in children) no longer seems to be justified. In such patients, early definitive surgery may offer more than it appears to sacrifice.


Assuntos
Colite Ulcerativa/tratamento farmacológico , Glucocorticoides/efeitos adversos , Adulto , Criança , Colite Ulcerativa/cirurgia , Humanos , Proctocolectomia Restauradora , Estudos Retrospectivos
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