Favourable ten-year overall survival in a Caucasian population with high probability of hereditary breast cancer

<p>Abstract</p> <p>Background</p> <p>The purpose of our study was to compare differences in the prognosis of breast cancer (BC) patients at high (H) risk or intermediate slightly (IS) increased risk based on family history and those without a family history of BC, and to evaluate whether ten-year overall survival can be considered a good indicator of <it>BRCA1 </it>gene mutation.</p> <p>Methods</p> <p>We classified 5923 breast cancer patients registered between 1988 and 2006 at the Department of Oncology and Haematology in Modena, Italy, into one of three different risk categories according to Modena criteria. One thousand eleven patients at H and IS increased risk were tested for <it>BRCA1/2 </it>mutations. The overall survival (OS) and disease free survival (DFS) were the study end-points.</p> <p>Results</p> <p>Eighty <it>BRCA1 </it>carriers were identified. A statistically significantly better prognosis was observed for patients belonging to the H risk category with respect to women in the IS and sporadic groups (82% vs.75% vs.73%, respectively; p < 0.0001). Comparing only <it>BRCA1 </it>carriers with <it>BRCA-</it>negative and sporadic BC (77% vs.77% vs.73%, respectively; p < 0.001) an advantage in OS was seen.</p> <p>Conclusions</p> <p>Patients belonging to a population with a high probability of being <it>BRCA1 </it>carriers had a better prognosis than those with sporadic BC. Considering these results, women who previously had BC and had survived ten years could be selected for <it>BRCA1 </it>analysis among family members at high risk of hereditary BC during genetic counselling. Since only 30% of patients with a high probability of having hereditary BC have <it>BRCA1 </it>mutations, selecting women with a long term survival among this population could increase the rate of positive analyses, avoiding the use of expensive tests.</p

Comparative genomics of proteins involved in RNA nucleocytoplasmic export

Background: The establishment of the nuclear membrane resulted in the physical separation of transcription and translation, and presented early eukaryotes with a formidable challenge: how to shuttle RNA from the nucleus to the locus of protein synthesis. In prokaryotes, mRNA is translated as it is being synthesized, whereas in eukaryotes mRNA is synthesized and processed in the nucleus, and it is then exported to the cytoplasm. In metazoa and fungi, the different RNA species are exported from the nucleus by specialized pathways. For example, tRNA is exported by exportin-t in a RanGTP-dependent fashion. By contrast, mRNAs are associated to ribonucleoproteins (RNPs) and exported by an essential shuttling complex (TAP-p15 in human, Mex67-mtr2 in yeast) that transports them through the nuclear pore. The different RNA export pathways appear to be well conserved among members of Opisthokonta, the eukaryotic supergroup that includes Fungi and Metazoa. However, it is not known whether RNA export in the other eukaryotic supergroups follows the same export routes as in opisthokonts. Methods: Our objective was to reconstruct the evolutionary history of the different RNA export pathways across eukaryotes. To do so, we screened an array of eukaryotic genomes for the presence of homologs of the proteins involved in RNA export in Metazoa and Fungi, using human and yeast proteins as queries. Results: Our genomic comparisons indicate that the basic components of the RanGTP-dependent RNA pathways are conserved across eukaryotes, and thus we infer that these are traceable to the last eukaryotic common ancestor (LECA). On the other hand, several of the proteins involved in RanGTP-independent mRNA export pathways are less conserved, which would suggest that they represent innovations that appeared later in the evolution of eukaryotes. Conclusions: Our analyses suggest that the LECA possessed the basic components of the different RNA export mechanisms found today in opisthokonts, and that these mechanisms became more specialized throughout eukaryotic evolution

A comprehensive overview of radioguided surgery using gamma detection probe technology

The concept of radioguided surgery, which was first developed some 60 years ago, involves the use of a radiation detection probe system for the intraoperative detection of radionuclides. The use of gamma detection probe technology in radioguided surgery has tremendously expanded and has evolved into what is now considered an established discipline within the practice of surgery, revolutionizing the surgical management of many malignancies, including breast cancer, melanoma, and colorectal cancer, as well as the surgical management of parathyroid disease. The impact of radioguided surgery on the surgical management of cancer patients includes providing vital and real-time information to the surgeon regarding the location and extent of disease, as well as regarding the assessment of surgical resection margins. Additionally, it has allowed the surgeon to minimize the surgical invasiveness of many diagnostic and therapeutic procedures, while still maintaining maximum benefit to the cancer patient. In the current review, we have attempted to comprehensively evaluate the history, technical aspects, and clinical applications of radioguided surgery using gamma detection probe technology

Nuevo registro de talla, datos morfométricos y merísticos y relación longitud-peso para la especie Haemulon sexfasciatum Gill 1862 (Haemulidae: Perciformes)

Haemulon sexfasciatum is an ecologically and commercially important fish species, widely distributed in the Tropical Eastern Pacific. In this paper report a new size record for this species is reported, based on a single specimen captured in Bahía Culebra, on the Northern Pacific coast of Costa Rica, in September 2020, as well morphometric and meristic data obtained from museum specimens, complementing previous descriptions. We also provide length-weight data generated from fresh and preserved specimens as a basis for calculating/estimating biomass and condition, with direct implications for the establishment of management measures, as well as conservation activities at both local and regional scales. Haemulon sexfasciatum has isometric growth, determined by the following equation: Weight = 0.0227 * Standard Length3.0400 (r2 = 0.99), with a maximum standard length of around 60 cm and a maximum total length of about 71 cm.Haemulon sexfasciatum é uma espécie de importância ecológica e pesqueira, amplamente distribuída no Pacífico Tropical Oriental. Nesta contribuição, relatamos um novo registro de tamanho para esta espécie, com base em um espécime capturado na Bahía Culebra, Pacífico Norte da Costa Rica, em setembro de 2020, bem como dados morfométricos e merísticos adicionais, obtidos a partir de material museográfico, complementando descrições anteriores. Também fornecemos dados de peso-altura, gerados a partir de material fresco e preservado, como base para cálculos/estimativas de biomassa e fator de condição, com implicações diretas no estabelecimento de medidas de manejo, bem como em ações de conservação em nível local e regional. Hemorlon sexfasciatum é uma espécie de crescimento isométrico, dada a relação (equação) do crescimento: peso = 0.0227 * comprimento padrão3.0400 (r2 = 0.99), que atinge um tamanho máximo de cerca de 60 cm em comprimento padrão e cerca de 71 cm de comprimento total.  Haemulon sexfasciatum es una especie de importancia ecológica y pesquera, ampliamente distribuida en el Pacífico Oriental Tropical. En la presente contribución reportamos un nuevo registro de talla para esta especie, con base en un ejemplar capturado en Bahía Culebra, Pacífico Norte de Costa Rica, en setiembre de 2020, así como datos morfométricos y merísticos adicionales, obtenidos a partir de material museográfico, complementando descripciones previas. Proveemos también datos de talla-peso, generados a partir de material fresco y preservado, como base para la realización de cálculos/estimaciones de biomasa y factor de condición, con implicaciones directas en el establecimiento de medidas de manejo, así como en acciones de conservación a escala local y regional. Haemulon sexfasciatum es una especie de crecimiento isométrico, dada la relación (ecuación) de crecimiento: peso = 0.0227 * longitud estándar3.0400 (r2 = 0.99), que alcanza una talla máxima de alrededor de 60 cm de longitud estándar y cerca de 71 cm de longitud total

First record of hybridization in Caranx Lacepède, 1801 (Carangidae: Perciformes) in the Tropical Eastern Pacific Ocean

During a recreational fishing trip on May 2017 to Isla Montuosa, Pacific coast of Panama (7.467472, -82.266556; 30 m depth), a specimen belonging to the genus Caranx was captured. The specimen showed an unusual combination of external characters, intermediate among the species known to occur in the Tropical Eastern Pacific (TEP), which caught the attention of the fishermen. A detailed analysis involving traditional morphology and molecular techniques revealed that the specimen corresponds to a hybrid of the species C. melampygus and C. sexfasciatus. This represents, to the best of our knowledge, the first confirmed record of hybridization within the genus and family in the TEP and the second record for the entire Pacific Ocean.UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Biodiversidad y Ecología Tropical (CIBET)UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias Básicas::Centro de Investigación en Ciencias del Mar y Limnología (CIMAR

Head-to-body delivery by "two-step" approach: effect on cord blood hematocrit

Abstract Background: There is no study to support a relationship between placental transfusion and active management techniques of the second stage of labor. Objective: To examine the association between head-to-body delivery by a "two-step" approach (which includes waiting for the next contraction to deliver the shoulders) and its effect on the amount of blood that remains in the infant's circulation at birth. Study design: Observational study on 500 consecutive, singleton, and at term deliveries from January to June 2012 in Policlinico Abano Terme, Abano Terme, Italy. Umbilical artery hematocrit (Htc) was evaluated in reference to contemporary tested pH values, involving neonates vaginally delivered by the "two-step" approach and by cesarean section, respectively. Results: Head-to-body delivery by the "two-step" approach significantly increased Htc values with respect to cesarean delivery (50.16% versus 47.24%, p\u2009<\u20090.001) and at the same time reduced pH (7.31\u2009\ub1\u20090.09 versus 7.33\u2009\ub1\u20090.06, p\u2009=\u20090.007) in umbilical artery. In addition, Htc levels for this group were significantly negatively correlated with umbilical artery pH (r\u2009=\u2009-0.137, p\u2009<\u20090.018). Conclusion: Head-to-body delivery by the "two-step" approach increases the red cell mass in term infants without any clinical risk of neonatal acidemia