Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

Noonan syndrome (NS) is characterized by short stature, facial dysmorphisms and congenital heart defects. PTPN11 mutations are the most common cause of NS. Patients with NS have a predisposition for leukemia and certain solid tumors. Data on the incidence of malignancies in NS are lacking. Our objective was to estimate the cancer risk and spectrum in patients with NS carrying a PTPN11 mutation. In addition, we have investigated whether specific PTPN11 mutations result in an increased malignancy risk. We have performed a cohort study among 297 Dutch NS patients with a PTPN11 mutation (mean age 18 years). The cancer histories were collected from the referral forms for DNA diagnostics, and by consulting the Dutch national registry of pathology and the Netherlands Cancer Registry. The reported frequencies of cancer among NS patients were compared with the expected frequencies using population-based incidence rates. In total, 12 patients with NS developed a malignancy, providing a cumulative risk for developing cancer of 23% (95% confidence interval (CI), 8–38%) up to age 55 years, which represents a 3.5-fold (95% CI, 2.0–5.9) increased risk compared with that in the general population. Hematological malignancies occurred most frequently. Two malignancies, not previously observed in NS, were found: a malignant mastocytosis and malignant epithelioid angiosarcoma. No correlation was found between specific PTPN11 mutations and cancer occurrence. In conclusion, this study provides first evidence of an increased risk of cancer in patients with NS and a PTPN11 mutation, compared with that in the general population. Our data do not warrant specific cancer surveillance

Use of the nursing process at public and private centers in a health area

AIM: to analyze whether the nursing process method is used at public and private centers in the health area Gipuzkoa (Basque Country) and, if yes, to analyze in the framework of which model and how it is used. METHOD: cross-sectional study, based on the analysis of the nursing records used at the 158 centers studied. RESULTS: the nursing process is applied at 98% of the centers. It is applied at all public and 18 out of 21 private centers. Virginia Henderson's model is the most used to apply it, and most centers use nursing diagnoses, the NIC-NOC terminology and standardized care plans. CONCLUSION: the use of the nursing process is widespread in Gipuzkoa, with greater use at public than at private centers.OBJETIVO: analizar si la metodología del proceso de enfermería se utiliza en los centros públicos y privados del área de salud de Gipuzkoa (País Vasco) y, en caso de utilizarse, analizar bajo qué modelo enfermero y de qué manera se utiliza. MÉTODO: estudio transversal, basado en el análisis de los registros de enfermería que utilizan los 158 centros estudiados. RESULTADOS: el proceso de enfermería se aplica en el 98% de los centros estudiados. Se aplica en todos los centros públicos y en 18 de los 21 centros privados. El modelo de Virginia Henderson es el más utilizado para aplicarlo, y el uso de los diagnósticos enfermeros, de la terminología NOC-NIC y de los planes de cuidados estandarizados es mayoritario. CONCLUSIÓN: se concluye que el uso del proceso de enfermería está extendido en Gipuzkoa, y su uso es mayor en los centros públicos que en los privados.OBJETIVO: analisar se a metodologia do processo de enfermagem é utilizada nos serviços públicos e privados do distrito de saúde de Gipuzkoa (País Basco) e, caso seja, analisar sob qual modelo de enfermagem e de que maneira é utilizada. MÉTODO: estudo transversal, baseado na análise dos registros de enfermagem usados pelos 158 serviços estudados. RESULTADOS: o processo de enfermagem aplica-se em 98% dos serviços estudados. É aplicado em todos os serviços públicos e em 18 dos 21 serviços privados. O modelo de Virginia Henderson é o mais utilizado para aplicá-lo, e o uso dos diagnósticos de enfermagem, da terminologia NOC-NIC e dos protocolos de cuidados padronizados é majoritário. CONCLUSÃO: conclui-se que o uso do processo de enfermagem está disseminado em Gipuzkoa, e que seu uso é maior nos serviços públicos do que nos privados

Deciduous Trees and the Application of Universal DNA Barcodes: A Case Study on the Circumpolar Fraxinus

The utility of DNA barcoding for identifying representative specimens of the circumpolar tree genus Fraxinus (56 species) was investigated. We examined the genetic variability of several loci suggested in chloroplast DNA barcode protocols such as matK, rpoB, rpoC1 and trnH-psbA in a large worldwide sample of Fraxinus species. The chloroplast intergenic spacer rpl32-trnL was further assessed in search for a potentially variable and useful locus. The results of the study suggest that the proposed cpDNA loci, alone or in combination, cannot fully discriminate among species because of the generally low rates of substitution in the chloroplast genome of Fraxinus. The intergenic spacer trnH-psbA was the best performing locus, but genetic distance-based discrimination was moderately successful and only resulted in the separation of the samples at the subgenus level. Use of the BLAST approach was better than the neighbor-joining tree reconstruction method with pairwise Kimura's two-parameter rates of substitution, but allowed for the correct identification of only less than half of the species sampled. Such rates are substantially lower than the success rate required for a standardised barcoding approach. Consequently, the current cpDNA barcodes are inadequate to fully discriminate Fraxinus species. Given that a low rate of substitution is common among the plastid genomes of trees, the use of the plant cpDNA “universal” barcode may not be suitable for the safe identification of tree species below a generic or sectional level. Supplementary barcoding loci of the nuclear genome and alternative solutions are proposed and discussed

Barrier Tissue Macrophages: Functional Adaptation to Environmental Challenges

Macrophages are found throughout the body, where they have crucial roles in tissue development, homeostasis and remodeling, as well as being sentinels of the innate immune system that can contribute to protective immunity and inflammation. Barrier tissues, such as the intestine, lung, skin and liver, are exposed constantly to the outside world, which places special demands on resident cell populations such as macrophages. Here we review the mounting evidence that although macrophages in different barrier tissues may be derived from distinct progenitors, their highly specific properties are shaped by the local environment, which allows them to adapt precisely to the needs of their anatomical niche. We discuss the properties of macrophages in steady-state barrier tissues, outline the factors that shape their differentiation and behavior and describe how macrophages change during protective immunity and inflammation