Sensitivity and specificity of a self-administered questionnaire for familial screening of adult-onset dystonia.

We developed a self-administered questionnaire for screening the most common adult-onset dystonias. It was tested in 90 first-degree relatives of 22 adult-onset dystonia patients, yielding 79% sensitivity and 94% specificity. Simulation of a case-finding procedure based on serial application of the questionnaire and clinical examination of both subjects screening positive and subjects screening negative who had < 8 years of schooling increased sensitivity to 95% and specificity to 100%. This questionnaire may be an important screening resource for familial aggregation studies to be used in the context of a complex case-finding procedure.     

Histological and biological developmental characterization of the human cerebellar cortex

The aim of this study was to investigate the histological and biological features of the human cerebellar cortex development and differentiation. We analyzed 52 brains of fetal and infant death victims, aged from 17 gestational weeks to 12th postnatal month. In particular, in the cerebellar cortex at different ages we evaluated, besides the structural aspects, the expression of several biomarkers implicated in proliferative processes (c-fos, PCNA and apoptosis). We observed morphological patterns progressively evolving every month, from the indefinite structure of the second gestational trimester to the four-layered structure (external granular layer, molecular layer, Purkinje cell layer, internal granular layer) of the late fetal cortex and subsequently to the three-layered postnatal definitive morphology, due to involution of the external granular layer. The evaluation of the biological features of the cerebellar cortex showed high proliferative activity mainly confined to the transient external granular layer in prenatal life, and high apoptotic index after birth. Thus, the histological examination, better with the support of biomarker investigations, allows with accuracy to describe the dynamic sequence of steps that occur in human cerebellar cortex development and to establish in each case the age, namely the pre- or postnatal month of life. Consequently, we can diagnose delayed or altered processes of differentiation during the development of the human cerebellar cortex.     

Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.

Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.     

Psychodramatische Supervision in der Sozialen Arbeit

Anliegen dieses Artikels ist, die besondere Qualit?t und Chance von Psychodramatischer Supervision zu beschreiben, und gleichzeitig die Kompatibilit?t und fruchtbare Erg?nzung des Moreno’schen Ansatzes innerhalb des Formats Supervision innerhalb der Sozialen Arbeit auf zuzeigen. Dies wird anhand von 2 ausgew?hlten Praxisbeispielen dargestellt. Die Handlungskompetenz von Supervisandinnen und Supervisanden kann durch einfache psychodramatische Interventionen erweitert werden. Handlungshemmung wird überwunden, Spontaneit?t und Kreativit?t kommen ins Laufen und er?ffnen Perspektiven.     

The expression of emotion through nonverbal behavior in medical visits

Relationship-centered care reflects both knowing and feeling: the knowledge that physician and patient bring from their respective domains of expertise, and the physician’s and patient’s experience, expression, and perception of emotions during the medical encounter. These processes are conveyed and reciprocated in the care process through verbal and nonverbal communication. We suggest that the emotional context of care is especially related to nonverbal communication and that emotion-related communication skills, including sending and receiving nonverbal messages and emotional self-awareness, are critical elements of high-quality care. Although nonverbal behavior has received far less study than other care processes, the current review argues that it holds significance for the therapeutic relationship and influences important outcomes including satisfaction, adherence, and clinical outcomes of care.