Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome.

Spondylocarpotarsal synostosis syndrome (SCT) is a very rare skeletal dysplasia characterized by vertebral, carpal, and tarsal fusion; growth retardation; and mild dysmorphic facial features. Variants in FLNB, MYH3, and RFLNA have been implicated in this dysplasia. We report the clinical and radiological follow-up of seven SCT pediatric cases associated with biallelic FLNB variants, from four Argentinian families. The seven cases share previously described facial characteristics: round facies, large eyes, and wide based nose; all of them had variable height deficit, in one case noted early in life. Other findings included clinodactyly, joint limitation without bone fusion, neurosensorial hearing loss, and ophthalmological compromise. All cases presented with spinal fusion with variable severity and location, carpal bones coalition, and also delay in carpal ossification. The heterozygous carrier parents had normal height values to -2.5 score standard deviation, without skeletal defects detected. Three different FLNB variants, one nonsense and two frameshift, were detected, all of which were predicted to result in a truncated protein or are degraded by nonsense mediated decay. All cases had at least one copy of the nonsense variant, c.1128C> G; p. (Tyr376*), suggesting the presence of a common ancestor.

[Education and health services: evaluating professional training]. / Educação e serviços de saúde: avaliando a capacitação dos profissionais.

This paper analyzes the results of a follow-up study and evaluation of the Specialization Course in Public Health administered from 1993 to 1995 by the Department of Preventive and Social Medicine at the School of Medical Sciences, Universidade de Campinas, Brazil. The study was conducted during the course and with a follow-up several months later. Students reported on their professional activities, difficulties and facilities in performing them, and their commitment to the public health services in which they worked. They also expounded on their needs and expectations regarding specialized training in public health. At the end of the required course load (first semester) and the optional courses (second semester), students evaluated the course content's relevance, their own understanding, and the strengths and weaknesses of the respective teaching strategies. Finally, six and eight months after the courses, the professionals evaluated how they were able to apply their new knowledge to their work. Various research instruments were used, including group dynamics, individual questionnaires, and focal groups, comprising a broad methodological approach. A single sample of individuals was thus studied at different moments with regard to this experience.

[Health education: a new approach]. / Educação em saúde: uma nova abordagem.

This article describes a series of experiences in the area of Health Education. The experiences, carried out with groups of health professionals working in institutions, begin with the social relationships in which these professionals are involved in their day-to-day work, in contact with other social agents and groups. One of the basic assumptions is that social relationships are an important aspect of the public health services provided to the population. As a result, health workers need specific training in this area to develop and improve their professional performance. The experiences show the importance of making theoretical and methodological approaches (like Educational Psychodrama and the Arvoredo Method) available to these workers. Those who have participated in such training programs have considerably improved their professional/social skills. One of the basic tenets of these approaches is the constant search for autonomy, as an essential element for people to increase awareness of themselves as individuals and as citizens, be they health care professionals or users. The experiences and methods described in this article may serve as one way of reducing the serious gaps in today's public health services.

[Health education: an experience in the Secretaria de Salud of the São Paulo State]. / Educación en salud: una experiencia en la Secretaría de Salud del Estado de São Paulo.

The authors make a detailed analysis of social research and educational programs carried on in the last 10 years by the Public Health Education Service, an agency of the São Paulo State Health Department. They emphasize the priorities that have been established and achievements made in the field of health education. They show how educational activities have generally been centered around teaching, especially the biological sciences, aiming at the adoption by the individual of standards considered adequate to attain greater well-being. From this point of view, educational activities take on an authoritarian character, stemming from an asymmetrical relationship between technical personnel and the population, which limits the evolution a real health awareness. In the authors' opinion, health education--in the present historical, political, and social context of Brazil and particularly of São Paulo State--requires that priorities be established, based on the main health needs of the majority of the population, through mechanisms that ensure the active participation of the community.