[What's new liquid biopsy-PIK3CA testing in breast cancer]. / What's New Liquid Biopsy ­ PIK3CA-Testung beim Mammakarzinom.

The impact of liquid biopsies on the analysis of molecular alterations of circulating tumor DNA (ctDNA) has recently increased. PIK3CA is one of the most frequently mutated genes in breast cancer and the expected approval of targeted PIK3CA therapy based on the results of the SOLAR1 trial is likely to lead to the use of liquid biopsies as another promising testing strategy in breast cancer patients who can benefit from a targeted therapy.Choosing an appropriate method for the detection of activating PIK3CA mutations should include factors like sensitivity, specificity, and limit of detection. The test should at least meet the parameters of the assay used in the drug approval study.If carefully used, PIK3CA mutation detection with liquid biopsies can then be a useful addition to standard tissue diagnostics.

Psychometric properties of the Resilience Scale - 14 in a sample of college students from France.

INTRODUCTION: In recent years, the integration of resilience in several psychological and medical studies underscores a need for resilience assessment measures with robust psychometric properties. This study aimed to evaluate the underlying structure of the French version of the Resilience Scale (RS-14), a widely used measure to assess resilience both in general and clinical population. METHOD: A sample of 2195 college students from France (18.68% of male; Mean age=20.09 years old (±1.21) completed the RS-14, the Child and Youth Resilience Measure, the Social Support Questionnaire and the Kessler Psychological Distress Scale. EFA with parallel analysis was conducted to assess the factorial structure of the RS-14 while CFA was performed to investigate the goodness-of-fit. Internal consistency, concurrent and convergent validity were evaluated. RESULTS: A one-dimensional-factorial-solution emerged from the EFA, its goodness-of-fit was adequate and it presented good internal consistency. As expected, the RS-14 score correlated positively to the CYRM and SSQ scores and negatively to the psychological distress score, supporting the validity of the scale. CONCLUSION: The one-dimensional-factor corroborates the initial and many languages versions of the RS-14. The results showed that the French version of the RS-14 presents adequate psychometric properties and that is a reliable and valid scale in evaluating resilience.

News about the genetics of congenital primary adrenal insufficiency.

Primary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support. Recently discovered mutations in genes relating to oxidative stress have opened the way to research on genes unrelated to the adrenal gland. Identification of causal mutations in a gene responsible for PAI allows genetic counseling, guidance of follow-up and prevention of complications. This is particularly true for stress oxidative anomalies, as extra-adrenal manifestations may occur due to the sensitivity to oxidative stress of other organs such as the heart, thyroid, liver, kidney and pancreas.

Supervising the uncanny: the play within the play.

The writer offers a combined experience in analysis and the performing arts to explore uncanny aspects of the unconscious subtext of the patient's inner drama; subtext which can remain hidden from view in supervision. Freud and Jung's understanding of uncanny experience is considered together with a painting from medieval alchemy and Matte Blanco's conceptions concerning the symmetrical nature of unconscious process. Theatre and the work of the theatre director and actor in approaching the multidimensional aspects of a play are then introduced. Finally clinical case material from group supervision demonstrates how the 'theatre of therapy' and the work of the supervisory couple and group promote the emergence of a more authentic conscious asymmetrical response to the patient's 'script' that can break the 'spell' of the transference/countertransference relationship. This in turn brings meaning to the underlying and implicit 'stage directions' that the patient has been unconsciously communicating.

Clinical massively parallel sequencing for the diagnosis of myopathies.

Massively parallel sequencing, otherwise known as high-throughput or next-generation sequencing, is rapidly gaining wide use in clinical practice due to possibility of simultaneous exploration of multiple genomic regions. More than 300 genes have been implicated in neuromuscular disorders, meaning that many genes need to be considered in a differential diagnosis for a patient affected with myopathy. By providing sequencing information for numerous genes at the same time, massively parallel sequencing greatly accelerates the diagnostic processes of myopathies compared to the classical "gene-after-gene" approach by Sanger sequencing. In this review, we describe multiple advantages of this powerful sequencing method for applications in myopathy diagnosis. We also outline recent studies that used this approach to discover new myopathy-causing genes and to diagnose cohorts of patients with muscular disorders. Finally, we highlight the key aspects and limitations of massively parallel sequencing that a neurologist considering this test needs to know in order to interpret the results of the test and to deal with other issues concerning the test.

Anorexia e melancolia / Anorexia and melancholia / Anorexie et mélancolie / Anorexia y melancolia

O texto desenvolve a proposição freudiana, que se encontra no Rascunho G, de que a anorexia é a neurose paralela à melancolia. Propõe que o elo entre melancolia e anorexia deve ser buscado no campo do narcisismo. Explora quatro aspectos da melancolia que permitem a aproximação destas duas afecções, entre elas, a inibição, a perspectiva de uma instância crítica que se diferencia do eu e se volta contra ele, o sadismo com que essa instância crítica trata o eu, e a identificação do eu ao objeto.

This article elaborates on Freud's position that anorexia is a neurosis parallel to melancholia. The author suggests that the link between melancholia and anorexia is to be found in the field of narcissism. Four aspects of melancholia are discussed, allowing an approximation of these two conditions. They , among them, inhibition, the perspective of a critical instance that differs from the ego and can turn against it, the sadism with which that critical instance treats the ego, and identification of the ego with the object.

Cet article développe l'idée freudienne selon laquelle l'anorexie est une névrose parallèle à la mélancolie. Nous défendons que le lien entre la mélancolie et l'anorexie se trouve dans le domaine du narcissisme. Nous explorons les quatre aspects du cadre mélancolique qui permettent d'opérer un rapprochement entre ces deux conditions, soit l'inhibition, la perspective d'une instance critique qui diffère du moi et se retourne contre lui, le sadisme avec lequel cette instance critique traite le moi et l'identification du moi à l'objet.

El texto desarrolla la propuesta freudiana, que se encuentra en el Esbozo G, de que la anorexia es una neurosis paralela a la melancolía. Propone que el vínculo entre la melancolía y anorexia debe ser encontrado en el campo del narcisismo. Explora cuatro aspectos del marco clínico melancólico que permiten la aproximación de estas dos condiciones (la anorexia y la melancolia): la inhibición, la perspectiva de una instancia de crítica que se discrimina del yo y se coloca contra él, el sadismo con que trata esa instancia crítica al yo, y la identificación del yo con el objeto.

Anorexia e melancolia / Anorexia and melancholia / Anorexie et mélancolie / Anorexia y melancolia

O texto desenvolve a proposição freudiana, que se encontra no Rascunho G, de que a anorexia é a neurose paralela à melancolia. Propõe que o elo entre melancolia e anorexia deve ser buscado no campo do narcisismo. Explora quatro aspectos da melancolia que permitem a aproximação destas duas afecções, entre elas, a inibição, a perspectiva de uma instância crítica que se diferencia do eu e se volta contra ele, o sadismo com que essa instância crítica trata o eu, e a identificação do eu ao objeto.(AU)

This article elaborates on Freud's position that anorexia is a neurosis parallel to melancholia. The author suggests that the link between melancholia and anorexia is to be found in the field of narcissism. Four aspects of melancholia are discussed, allowing an approximation of these two conditions. They , among them, inhibition, the perspective of a critical instance that differs from the ego and can turn against it, the sadism with which that critical instance treats the ego, and identification of the ego with the object.(AU)

Cet article développe l'idée freudienne selon laquelle l'anorexie est une névrose parallèle à la mélancolie. Nous défendons que le lien entre la mélancolie et l'anorexie se trouve dans le domaine du narcissisme. Nous explorons les quatre aspects du cadre mélancolique qui permettent d'opérer un rapprochement entre ces deux conditions, soit l'inhibition, la perspective d'une instance critique qui diffère du moi et se retourne contre lui, le sadisme avec lequel cette instance critique traite le moi et l'identification du moi à l'objet.(AU)

El texto desarrolla la propuesta freudiana, que se encuentra en el Esbozo G, de que la anorexia es una neurosis paralela a la melancolía. Propone que el vínculo entre la melancolía y anorexia debe ser encontrado en el campo del narcisismo. Explora cuatro aspectos del marco clínico melancólico que permiten la aproximación de estas dos condiciones (la anorexia y la melancolia): la inhibición, la perspectiva de una instancia de crítica que se discrimina del yo y se coloca contra él, el sadismo con que trata esa instancia crítica al yo, y la identificación del yo con el objeto.(AU)

Exposure to Alternative Healthcare Providers and Adherence to Guidelines among Patients with Diabetes.

OBJECTIVES: Diabetes is increasing in prevalence across Canada. In the continuously evolving primary care landscape, practitioners from varied training paths are claiming rights to care for patients, including those with diabetes. Little is known about patient exposure to complementary and alternative medicine (CAM) providers, or about such providers' use of guideline-based monitoring and treatment recommendations. The purpose of this study was to examine compliance with 4 recommendations (influenza vaccination, eye examination, glycated hemoglobin measurement and foot exam) by patients with diabetes who use CAM providers compared to those who exclusively use primary care physicians. METHODS: We analyzed data on 7209 patients with diabetes using the Canadian Community Health Survey. Patients with exposure to CAM providers were compared with individuals who were exposed to a family physician only. Multivariate logistic regression was conducted adjusted for age, sex, duration of diabetes, insulin/oral antihyperglycemic agent use and education. RESULTS: Approximately 4% of persons had been exposed to CAM providers in the preceding year. The odds ratio for receiving influenza vaccination among those exposed to a CAM provider was 0.94 (95% CI 0.74-1.17). The odds ratios for eye examinations in the preceding 24 months, and for foot examinations and glycated hemoglobin tests in the preceding 12 months were 1.02 (95% CI 0.69-1.48), 1.18 (0.83-1.67) and 1.09 (95% CI 0.71-1.66), respectively. CONCLUSION: Our results did not show statistical significance in any of the 4 outcomes analyzed. This study supports others suggesting that persons using CAM providers do so to complement traditional medical care, rather than as an alternative to such care.