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1.
J Med Genet ; 59(2): 115-121, 2022 02.
Article de Anglais | MEDLINE | ID: mdl-33758026

RÉSUMÉ

BACKGROUND: While the likelihood of identifying constitutional breast cancer-associated BRCA1, BRCA2 and TP53 pathogenic variants (PVs) increases with earlier diagnosis age, little is known about the correlation with age at diagnosis in other predisposition genes. Here, we assessed the contribution of known breast cancer-associated genes to very early onset disease. METHODS: Sequencing of BRCA1, BRCA2, TP53 and CHEK2 c.1100delC was undertaken in women with breast cancer diagnosed ≤30 years. Those testing negative were screened for PVs in a minimum of eight additional breast cancer-associated genes. Rates of PVs were compared with cases ≤30 years from the Prospective study of Outcomes in Sporadic vs Hereditary breast cancer (POSH) study. RESULTS: Testing 379 women with breast cancer aged ≤30 years identified 75 PVs (19.7%) in BRCA1, 35 (9.2%) in BRCA2, 22 (5.8%) in TP53 and 2 (0.5%) CHEK2 c.1100delC. Extended screening of 184 PV negative women only identified eight additional actionable PVs. BRCA1/2 PVs were more common in women aged 26-30 years than in younger women (p=0.0083) although the younger age group had rates more similar to those in the POSH cohort. Out of 26 women with ductal carcinoma in situ (DCIS) alone, most were high-grade and 11/26 (42.3%) had a PV (TP53=6, BRCA2=2, BRCA1=2, PALB2=1). This PV yield is similar to the 61 (48.8%) BRCA1/2 PVs identified in 125 women with triple-negative breast cancer. The POSH cohort specifically excluded pure DCIS which may explain lower TP53 PV rates in this group (1.7%). CONCLUSION: The rates of BRCA1, BRCA2 and TP53 PVs are high in very early onset breast cancer, with limited benefit from testing of additional breast cancer-associated genes.


Sujet(s)
Tumeurs du sein/génétique , Checkpoint kinase 2/génétique , Gène BRCA1 , Gène BRCA2 , Mutation , Adulte , Âge de début , ADN tumoral , Femelle , Gènes p53 , Humains , Analyse de séquence d'ADN
2.
Front Microbiol ; 10: 2136, 2019.
Article de Anglais | MEDLINE | ID: mdl-31572341

RÉSUMÉ

Livestock-associated methicillin-resistant Staphylococcus aureus (LA-MRSA) is an emerging problem in many parts of the world. Although animal-adapted LA-MRSA has been known for many years, recent reports suggest a possible increasing trend in the zoonotic transmission of LA-MRSA in Europe. Since its emergence in the early 2000's, several investigations have indicated that persons in prolonged, repeated contact with affected livestock are at a higher risk of becoming colonized with LA-MRSA. LA-MRSA monitoring in livestock is voluntary under current EU legislation, and not all member states, including the UK, participate. UK LA-MRSA isolates have been detected through scanning surveillance, where samples are submitted from clinically diseased livestock for diagnostic investigation, and research studies. Surveys conducted on retail beef, pig and poultry meat on sale in the UK have also detected LA-MRSA. Taken together these results suggest that LA-MRSA is present in the UK, possibly at low prevalence level, as suggested by available evidence. In this review, we examine the data available from UK livestock and animal products, and make recommendations for future. We also review the findings from whole genome sequencing (WGS) of the possible lineage of some UK livestock isolates.

3.
Perm J ; 16(4): 19-25, 2012.
Article de Anglais | MEDLINE | ID: mdl-23251112

RÉSUMÉ

INTRODUCTION: Physicians are continually encouraged to be more productive while providing higher levels of patient satisfaction. It is a common presumption that the two goals are somewhat exclusive-that higher productivity must entail a sacrifice in patient satisfaction or vice versa. Moreover, physicians seeking tested, evidence-based approaches to improving satisfaction have had relatively little to go on, and they commonly have justifiable concerns about how ineffective changes may hurt their productivity for no benefit. METHODS: For our large specialty practice, we plotted physicians into quadrants on a scattergram: strong performers on productivity and patient satisfaction, those who are weak in both areas, and those who are strong in one and weak in the other. We performed an observational study to investigate behaviors and work processes associated with a range of performance levels in productivity and patient satisfaction. RESULTS: The observation yielded clear, discrete sets of common characteristics for physicians and staff in each quadrant. In our organization, these findings have provided practical assistance for physicians performing at any level to assess their own situation and chart a path, on their own or with coaching, that leads to improvement. CONCLUSIONS: The findings help dispel commonly held myths about the exclusivity of productivity and patient satisfaction, suggesting that 1) there are many physicians who excel in both areas simultaneously, and 2) there are different characteristics associated with varying levels of performance. The study encourages the further development of evidence-based methods for improving the patient experience while enhancing-not sacrificing-productivity.


Sujet(s)
Rendement , Satisfaction des patients/statistiques et données numériques , Relations médecin-patient , Médecins/normes , Établissements de soins ambulatoires/normes , Établissements de soins ambulatoires/statistiques et données numériques , Compétence clinique/normes , Humains , Projets pilotes
4.
Prev Vet Med ; 82(1-2): 29-41, 2007 Nov 15.
Article de Anglais | MEDLINE | ID: mdl-17582529

RÉSUMÉ

We conducted a cross-sectional study on 255 cattle farms in England and Wales to identify risk factors for verocytotoxin-producing E. coli O157 (VTEC). Exposure variables were collected at the levels of the farm and of the group of young-stock within the farms. On each farm a group of young-stock (6-18 months of age) was sampled to establish VTEC status. In our multiple logistic regression, farm VTEC status was associated with access to springs (OR: 0.31, CI95%: 0.12, 0.78) and assessing the wetness of the bedding material less frequently than daily (OR: 3.89 CI95%: 1.5, 10.2). At group-level we found no associated risk factors for animals housed outdoors in fields. Significant for groups housed in pens were wet bedding (wet OR: 3.43, CI95%: 1.3, 9.4; very wet OR: 4.24, CI95%: 1.2, 14.6), number of animals in the group (10-15 OR: 2.72, CI95%: 0.75, 9.9, 16-24, OR: 3.78, CI95%: 1.2, 12.3; >25 OR: 3.78, CI95%: 1.1, 12.7) and feeding straw (OR: 2.29, CI95%: 1.2, 5.5).


Sujet(s)
Maladies des bovins/épidémiologie , Maladies des bovins/prévention et contrôle , Infections à Escherichia coli/médecine vétérinaire , Escherichia coli O157 , Animaux , Toxines bactériennes/biosynthèse , Bovins , Maladies des bovins/étiologie , Maladies des bovins/microbiologie , Études transversales , Angleterre/épidémiologie , Infections à Escherichia coli/épidémiologie , Infections à Escherichia coli/prévention et contrôle , Hébergement animal , Facteurs de risque , Enquêtes et questionnaires , Pays de Galles/épidémiologie
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