Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR - 1.10, 95% CI: 1.03-1.18, P - 0.006 and HR - 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P 7 = 10 x (11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42%

A systematic review of midwife led interventions to address post traumatic stress syndrome

Objective
to systematically identify interventions that midwives could introduce to address post-traumatic stress in women following childbirth.

Methods
a search strategy was developed and relevant papers were identified from databases including Cinahl, Cochrane Library, EMBASE, Maternity and Infant Care, MEDLINE, PsycINFO, and Web of Science. Key search terms used were post-traumatic stress, post partum, intervention, controlled trial and review. Papers eligible for inclusion were primary studies and reviews of research published from 2002–2012, focusing on interventions which could be implemented by midwives for the prevention and/or management of PTSD. For primary studies, RCTs, controlled clinical trials, and cohort studies with a control group were eligible. Eligible reviews were those with a specified search strategy and inclusion/exclusion criteria. Methodological quality was assessed using recognised frameworks.

Findings
six primary studies and eight reviews were eligible for inclusion. The majority of included studies or reviews focused on debriefing and/or counselling interventions; however the results were not consistent due to significant variation in methodological quality and use of dissimilar interventions. Two of the reviews considered the general management of post partum PTSD and one broadly covered anxiety during pregnancy and the post partum, incorporating a section on PTSD. The majority of women reported that the opportunity to discuss their childbirth experience was subjectively beneficial.

Conclusions and implications for practice
no evidence-based midwifery interventions were identified from this systematic review that can be recommended for introduction into practice to address PTSD. It is recommended that future research in this area should incorporate standardised interventions with similar outcome measures to facilitate synthesis of results. Further research on interventions used in non-maternity populations is needed in order to confirm their usefulness in addressing post partum PTSD.

A systematic review of midwife-led interventions to address post partum post-traumatic stress

Influência de um programa de exercícios específicos em estudantes de violino

Introdução: A elevada prevalência de problemas musculosqueléticos relacionados com a performance musical (PMRPM) em estudantes universitários de música, sobretudo violinistas, justifica uma abordagem preventiva junto destes, nomeadamente, através do exercício. Este deve ser específico e baseado nos padrões de movimento durante a performance musical do violinista. Objetivos: verificar a influência de um programa de exercícios específicos (PEE) nos sintomas relacionados com a prática musical, na incapacidade funcional e na autoperceção da performance física e musical, em estudantes universitários de violino. Métodos: estudo quase-experimental baseado num estudo piloto com 24 estudantes para pesquisa da sintomatologia, e 4 para análise cinemática e cinética do gesto técnico. No estudo principal participaram 22 violinistas divididos equitativamente, e por disponibilidade, entre grupo experimental (GE) e grupo de controlo (GC). O GE realizou o PEE bissemanalmente, durante 8 semanas. No momento inicial e após 8 semanas, os participantes preencheram: Questionário de Performance (incluiu Escala Visual Analógica), Disabilities of the Arm, Shoulder and Hand, Oswestry Disability Index versão 2.0, Pain Catastrophizing Scale e Escala de Borg Modificada. Resultados: do estudo piloto constatou-se que os sintomas mais frequentes, dor e fadiga, localizavam-se na cintura escapular, ombros e coluna lombar; os ombros aparentavam maior risco de PMRPM; era necessário aumentar a endurance dos mobilizadores dos membros superiores (principalmente deltóide) e relaxar os estabilizadores da coluna cervical (sobretudo trapézio superior). No final do PEE, o GE apresentou significativamente melhores pontuações do que o GC na percentagem de violinistas com “dor na coluna lombar esquerda” (p=0,007), frequência da dor (U=8,5; W=29,5; p=0,016), número de locais com sintomas (U=18; W=84; p=0,003) e amplificação (U=26; W=92; p=0,021). Conclusão: Um PEE pode produzir efeitos positivos na diminuição dos sintomas relacionados com a prática musical e incapacidade funcional, e na melhoria de alguns parâmetros da performance física autoreportada, em estudantes universitários de violino.

Efeitos de dois programas de exercício na endurance de tronco, controlo lombo-pélvico, perceção de dor lombar e fadiga, funcionalidade e qualidade de vida: Pilates Clínico vs Exercícios segundo McGill

Introdução: A lombalgia crónica assume uma elevada prevalência e graves repercussões a nível socioeconómico, sendo inúmeras as abordagens terapêuticas para o seu tratamento e prevenção. Existindo forte evidência da eficácia dos exercícios terapêuticos no seu tratamento, importa saber quais os mais efetivos. Objectivos: Comparar a efetividade de dois programas de exercício terapêutico na endurance do tronco, no controlo lombo-pélvico, na perceção de dor lombar e fadiga, na funcionalidade e na qualidade de vida em mulheres com lombalgia crónica não especifica, cuidadoras de idosos. Métodos: 24 mulheres foram divididas aleatoriamente em três grupos de 8. Durante 6 semanas, um grupo serviu de controlo (GC) e os outros dois grupos realizaram um programa de exercícios: Pilates Clínico (GP) ou exercícios segundo McGill (GM), com os outcomes medidos em ternos de endurance de tronco pelos testes de McGill, controlo lombo-pélvico pelos testes Active Straight Leg Raise e teste de controlo lombo-pélvico segundo McGill, dor lombar pela Numerical Rating Scale, fadiga pela escala de Borg, funcionalidade através do Questionário de Incapacidade de Roland Morris e qualidade de vida através do Questionário de Estado de Saúde (SF36-V2). Resultados: Relativamente à endurance, verificaram-se diferenças entre grupos no rácio flexores/extensores (p=0,005), e no rácio lateroflexores à esquerda/extensores (p=0,027), sendo que o GP apresentou um rácio estatisticamente inferior ao GC em ambos. Não existiram diferenças estatisticamente significativas entre os 3 grupos no controlo lombo-pélvico, perceção de dor, fadiga e funcionalidade, apesar das melhorias observadas intra-grupos. Relativamente à qualidade de vida, a dimensão saúde em geral aumentou significativamente no GP (p=0,020) e a função social no GM (p=0,045). Conclusão: A implementação dos programas de exercício Pilates Clínico e Exercícios segundo McGill numa amostra de cuidadoras de idosos com lombalgia crónica não especifica, parece ter um efeito positivo quando comparados com os do grupo de controlo sobre a endurance do tronco, controlo lombo-pélvico, perceção de dor lombar e fadiga, funcionalidade e qualidade de vida.

O contextualismo na filosofia da linguagem contemporânea

Tese apresentada para cumprimento dos requisitos necessários à obtenção do grau de Doutor em Filosofia

Spectral Analysis of Bounded Self-adjoint operators - A Linear Algebraic Approach

This thesis Entitled Spectral theory of bounded self-adjoint operators -A linear algebraic approach.The main results of the thesis can be classified as three different approaches to the spectral approximation problems. The truncation method and its perturbed versions are part of the classical linear algebraic approach to the subject. The usage of block Toeplitz-Laurent operators and the matrix valued symbols is considered as a particular example where the linear algebraic techniques are effective in simplifying problems in inverse spectral theory. The abstract approach to the spectral approximation problems via pre-conditioners and Korovkin-type theorems is an attempt to make the computations involved, well conditioned. However, in all these approaches, linear algebra comes as the central object. The objective of this study is to discuss the linear algebraic techniques in the spectral theory of bounded self-adjoint operators on a separable Hilbert space. The usage of truncation method in approximating the bounds of essential spectrum and the discrete spectral values outside these bounds is well known. The spectral gap prediction and related results was proved in the second chapter. The discrete versions of Borg-type theorems, proved in the third chapter, partly overlap with some known results in operator theory. The pure linear algebraic approach is the main novelty of the results proved here.

Goldnanoteilchen auf Titandioxid

In dieser Arbeit wurde das Wachstum sowie die ultraschnelle Elektronendynamik des Oberflächenplasmon Polaritons von Goldnanoteilchen auf Titandioxid untersucht. Die Messung der Dephasierungszeit des Oberflächenplasmons von Nanoteilchen mit definierter Form und Größe erfolgte dabei mit der Methode des spektralen Lochbrennens. Die Nanoteilchen wurden durch Deposition von Goldatomen aus einem thermischen Atomstrahl mit anschließender Diffussion und Nukleation, d.h. Volmer-Weber-Wachstum, auf Titandioxidsubstraten hergestellt und mittels einer Kombination aus optischer Spektroskopie und Rasterkraftmikroskopie systematisch untersucht. Dabei lässt sich das Nanoteilchenensemble durch das mittlere Achsverhältnis und den mittleren Äquivalentradius charakterisieren. Die Messungen zeigen, dass die Proben große Größen- und Formverteilungen aufweisen und ein definierter Zusammenhang zwischen Größe und Form der Teilchen existiert. Während kleine Goldnanoteilchen nahezu kugelförmig sind, flachen die Teilchen mit zunehmender Größe immer mehr ab. Des Weiteren wurde in dieser Arbeit die Methode des lasergestützten Wachstums auf das System Gold auf Titandioxid angewendet. Systematische Untersuchungen zeigten, dass sich das Achsverhältnis der Teilchen durch geeignete Wahl von Photonenenergie und Fluenz des eingestrahlten Laserlichts definiert und gezielt vorgeben lässt. Die Methode des lasergestützten Wachstums erschließt damit den Bereich außerhalb der Zugänglichkeit des natürlichen Wachstums. Aufgrund der Formabhängigkeit der spektrale Lage der Plasmonresonanz ist man somit in der Lage, die optischen Eigenschaften der Nanoteilchen gezielt einzustellen und z.B. für technische Anwendungen zu optimieren. Die Untersuchung der ultraschnellen Elektronendynamik von Goldnanoteilchen auf Titandioxid mit äquivalenten Radien zwischen 8 bis 15 nm erfolgte in dieser Arbeit mit der Methode des spektralen Lochbrennes. Hierzu wurde die Dephasierungszeit des Oberflächenplasmons systematisch als Funktion der Photonenenergie in einem Bereich von 1,45 bis 1,85 eV gemessen. Es zeigte sich, dass die gemessenen Dephasierungszeiten von 8,5 bis 16,2 fs deutlich unter den in der dielektrischen Funktion von Gold enthaltenen Werten lagen, was den erwarteten Einfluss der reduzierten Dimension der Teilchen demonstriert. Um die Messwerte trotz verschiedener Teilchengrößen untereinander vergleichen und den Einfluss der intrinsischen Dämpfung quantifizieren zu können, wurde zusätzlich der Dämpfungsparameter A bestimmt. Die ermittelten A-Faktoren zeigten dabei eine starke Abhängigkeit von der Plasmonenergie. Für Teilchen mit Plasmonenergien von 1,45 bis 1,55 eV wurde ein Dämpfungsfaktor von A ~ 0,2 nm/fs ermittelt, der lediglich Oberflächenstreuung als dominierenden Dämpfungsmechanismus widerspiegelt. Hingegen wurde für Teilchen mit Plasmonenergien oberhalb von 1,55 eV ein drastischer Anstieg der Dämpfung auf A ~ 0,4 nm/fs beobachtet. Die erhöhte Dämpfung wurde dabei dem zusätzlichen Vorliegen einer chemischen Dämpfung durch das Titandioxidsubstrat zugeschrieben. Zusammenfassend zeigen die Ergebnisse somit, dass eine starke Abhängigkeit der chemischen Dämpfung von der Photonenenergie vorliegt. Es konnte erstmals nachgewiesen werden, dass die chemische Dämpfung erst ab einer bestimmten unteren Schwelle der Photonenenergie einsetzt, die für Goldnanoteilchen auf Titandioxid bei etwa 1,6 eV liegt.

Modelling the Somantic Electrical Response of Hippocampal Pyramidal Neurons

A modeling study of hippocampal pyramidal neurons is described. This study is based on simulations using HIPPO, a program which simulates the somatic electrical activity of these cells. HIPPO is based on a) descriptions of eleven non-linear conductances that have been either reported for this class of cell in the literature or postulated in the present study, and b) an approximation of the electrotonic structure of the cell that is derived in this thesis, based on data for the linear properties of these cells. HIPPO is used a) to integrate empirical data from a variety of sources on the electrical characteristics of this type of cell, b) to investigate the functional significance of the various elements that underly the electrical behavior, and c) to provide a tool for the electrophysiologist to supplement direct observation of these cells and provide a method of testing speculations regarding parameters that are not accessible.

Prevalencia de factores de riesgo psicosocial en trabajadores de una empresa del sector salud, Yopal 2014

Antecedentes: Los factores de Riesgo psicosocial según la resolución 2646 de 2008 “comprenden los aspectos intralaborales, extralaborales o externos a la organización y las condiciones individuales o características intrínsecas al trabajador, los cuales en una interrelación dinámica, mediante percepciones y experiencias, influirían en la salud y el desempeño de las personas”. El objetivo del estudio es establecer la prevalencia de factores de riesgo psicosocial y la asociación existente en la población trabajadora del área administrativa y asistencial, en una empresa del sector salud nivel II, Yopal, 2014 Materiales y método: Se diseñó un estudio de corte transversal para establecer la prevalencia de los factores de riesgo psicosocial en una población de 92 trabajadores del área administrativa (50) y asistencial (42) en una empresa del sector salud nivel II en Yopal, por medio de la batería de Riesgo Psicosocial del Ministerio de la Protección Social. Resultados: Se realizó un análisis multivariado, se puede afirmar con un nivel de confianza del 95% que en la población de estudio, la prevalencia de riesgo intralaboral en la población administrativa está entre el 9,5% y 34,5% y en los trabajadores del área asistencial entre el 9,7% y el 37,9%. El riesgo extralaboral en el área administrativa está entre el 4,8% y el 27,2%, en el área asistencial la prevalencia está entre el 1,5% y el 19,5%. La prevalencia de Riesgo de Estrés se encuentra en la población administrativa entre el 29,2% y el 58,8% y en el área asistencial entre el 17,9% y el 48,8%. Se encontró una asociación (p = 0,007) entre estado civil y riesgo intralaboral en la población asistencial, entre tipo de vivienda y nivel de estres (p= 0,003) en la población administrativa, y entre número de personas a cargo económicamente y riesgo extralaboral (p=0,004) en el área asistencial. Discusión: La prevalencia de riesgo psicosocial es evidente en las dos áreas de trabajo tanto administrativos como asistenciales, sin embargo se encuentra una prevalencia mayor de riesgo en el área asistencial en la dimensión exigencias del rol dado a un incremento en la responsabilidad y tiempo extra que se debe realizar para el desarrollo de tareas y su cumplimiento ante el rol desempeñado; los resultados permiten implementar programas de vigilancia epidemiológica que permitan mitigar y controlar los hallazgos en este estudio.