Biomarkers changes after neoadjuvant chemotherapy in breast cancer: A seven-year single institution experience

The adoption of neoadjuvant chemotherapy (NACT) for breast cancer (BC) is increasing. The need to repeat the biomarkers on a residual tumor after NACT is still a matter of debate. We verified estrogen receptors (ER), progesterone receptors (PR), Ki67 and human epidermal growth factor receptor 2 (HER2) status changes impact in a retrospective monocentric series of 265 BCs undergoing NACT. All biomarkers changed with an overall tendency toward a reduced expression. Changes in PR and Ki67 were statistically significant (p = 0.001). Ki67 changed in 114/265 (43.0%) cases, PR in 44/265 (16.6%), ER in 31/265 (11.7%) and HER2 in 26/265 (9.8%). Overall, intrinsic subtype changed in 72/265 (27.2%) cases after NACT, and 10/265 (3.8%) cases switched to a different adjuvant therapy accordingly. Luminal subtypes changed most frequently (66/175; 31.7%) but with less impact on therapy (5/175; 2.8%). Only 3 of 58 triple-negative BCs (5.2%) changed their intrinsic subtype, but all of them switched treatment. No correlation was found between intrinsic subtype changes and clinicopathological features. To conclude, biomarkers changes with prognostic implications occurred in all BC intrinsic subtypes, albeit they impacted therapy mostly in HER2 negative and/or hormone receptors negative BCs. Biomarkers retesting after NACT is important to improve both tailored adjuvant therapies and prognostication of patients

Large-scale diversity estimation through surname origin inference

The study of surnames as both linguistic and geographical markers of the past has proven valuable in several research fields spanning from biology and genetics to demography and social mobility. This article builds upon the existing literature to conceive and develop a surname origin classifier based on a data-driven typology. This enables us to explore a methodology to describe large-scale estimates of the relative diversity of social groups, especially when such data is scarcely available. We subsequently analyze the representativeness of surname origins for 15 socio-professional groups in France

Cluster of travel-associated Legionnaires' disease in Lazise, Italy, July to August 2011

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Physical and leisure activities and it’s impact on cognition in aging

Modelo de estudo: estudo de prevalência. Objetivos do estudo: Este estudo teve como objetivo investigar a prevalência de atividades físicas e de lazer entre um grupo de idosos com idade entre 70 e 75 anos. Além disso, foi investigado se a inserção nessas atividades pode exercer influência sobre a cognição. Metodologia: Participaram do estudo 45 idosos de ambos os sexos, com idade entre 70 e 75 anos, cadastrados em um Núcleo de Saúde da Família (NSF) na cidade de Ribeirão Preto (SP), sem doenças neurológicas (previamente diagnosticadas), não acamados e não asilados. Foram utilizados um questionário para levantamento de dados sociodemográficos e de saúde, hábitos de vida e rotina do idoso, formulado com questões de caracterização dos sujeitos, incluindo informações sobre a realização e características das atividades de lazer e físicas, e o Mini-Exame do Estado Mental – MEEM. Resultados: No grupo estudado, 52,3% referiram praticar atividade física, principalmente caminhada, sendo maior a participação entre os homens (69,2%) do que entre as mulheres (43,7%). Quanto às atividades de lazer, 80% relatou participar de alguma atividade (81,2% das mulheres e 76,9% dos homens), sendo que a maioria (66,6%) apontou como lazer o hábito de freqüentar igreja. Os idosos que praticavam atividades de lazer obtiveram escores no MEEM significativamente superiores àqueles que não praticavam, verificado pelo teste t (p<0,05). Não houve diferença significativa (p>0,05) de desempenho no MEEM quando comparados os indivíduos que praticavam atividade física e aqueles que não praticavam. Conclusões:  O estímulo às atividades de lazer deve também ser considerado quando se pensam em atividades de promoção à saúde, especialmente no que tange a aumentar as possibilidades de um envelhecimento físico e cognitivo saudável.  Paper design: prevalence study.Objective:The goal of this study was to investigate the prevalence of physical and leisure activities among a gruop of elderly with age of 70 to 75. Furthermore, it was investigated if those activities would have an influence in cognition. Methods: Participated in this study 45 elderly of both gender in the age of 70 to 75. They were non bedridden, non living in an asylum, had no neurolical diseases ( pre diagnosticated) and were cadastrated in a Núcleo de Saúde da Família (NSF) in the city of Ribeirão Preto, São Paulo, Brazil. Two questionnaire were used: one to gatter data of social and economic state, health, life habits and the elderly routine, formulated with questions to qualify the subjects including informations about leisure and physical activities ; and the other one was the Mini Exame of Mental Health. Results: In this studied group 52,3% reported the habit to praticate physical activities, especialy walk, and men refered doing it more (69,2%) then women (43,7%). About the leisure activities 80% reported doing it (81,2% of the women and 76,9% of the men). The most refered tipe was going to church (66,6%). The elderly who practiced leisure activities had a significative higher score, verified by the t test, on the Mini Exame then those who didn’t. Conclusions: The incentive to leisure activities should be considered when one thinks about health promotion, specialy when there is a possibility to upgrade the chances of a healthy physical and cognition aging

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Background: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90% of SDS patients have pathogenic variants in SBDS, the first gene associated with the disease with very low allelic heterogeneity; three variants, derived from events of genetic conversion between SBDS and its pseudogene, SBDSP1, provided the alleles observed in about 62% of SDS patients.Methods: We performed a reanalysis of the available WES files of a group of SDS patients with biallelic SBDS pathogenic variants, studying the results by next bioinformatic and protein structural analysis. Parallelly, careful clinical attention was given to the patient focused in this study.Results: We found and confirmed in one SDS patient a germline heterozygous missense variant (c.100T>C; p.Phe34Leu) in the EIF6 gene. This variant, inherited from his mother, has a very low frequency, and it is predicted as pathogenic, according to several in silico prediction tools. The protein structural analysis also envisages the variant could reduce the binding to the nascent 60S ribosomal.Conclusion: This study focused on the hypothesis that the EIF6 germline variant mimics the effect of somatic deletions of chromosome 20, always including the locus of this gene, and similarly may rescue the ribosomal stress and ribosomal dysfunction due to SBDS mutations. It is likely that this rescue may contribute to the stable and not severe hematological status of the proband, but a definite answer on the role of this EIF6 variant can be obtained only by adding a functional layer of evidence. In the future, these results are likely to be useful for selected cases in personalized medicine and therapy