RESUMO
La hendidura labio palatina (cleft lip/palate, CL/P) es una alteración craneofacial de alta frecuencia en la población mundial, cuya etiología es multifactorial, y que involucra factores tanto genéticos como ambientales. La mayoría de este tipo de patologías se presenta como un defecto no sindrómico (70%), y el resto de hendiduras se asocian con alteraciones adicionales en los defectos de tipo sindrómico. Gracias al desarrollo de herramientas moleculares se han identificado varios genes que están involucrados en CL/P de tipo no sindrómico, como son el proto-oncogen Bcl3, el gen Tgfb, el gen homeótico Msx1 y el gen Bmp entre otros, los cuales se han podido identificar mediante estudios de ligamiento y el uso de ratones deficientes en estos genes (knock-out). Por otra parte, se han identificado más de 300 síndromes diferentes asociados con CL/P, entre ellos uno de los más frecuentes el síndrome de van der Woude donde también se han identificado mutaciones en genes como el IRF6. Debido a que CL/P es una patología de alta complejidad etiológica donde las alteraciones genéticas juegan un importante papel y donde cada día se amplía el conocimiento sobre alteraciones en diversos genes que contribuyen a la formación de la alteración, el objetivo de este artículo, es revisar la información actualizada sobre la genética del CL/P y los genes reportados que pueden contribuir al desarrollo de esta compleja patología.
Clefts of the lip and palate (CL/P) are a craneofacial alteration of high frequency in the world-wide population, whose etiology is multifactorial, involving genetic factors as much as environmental ones. Most of this type of pathologies (70%) appear as non-syndromic form, although the presence of additional facial alterations is associated with clefts of syndromic type. The development of molecular tools has permitted to identify some of the genes that are involved in non-syndromic CL/P, such as proto-oncogen Bcl3, gene Tgfb, homeotic gene Msx1 and Bmp among others, which have demonstrated a relationships between them using both linkage analysis and knock-out mice. In the other hand, they have been identified more of 300 different syndromes associated with CL/P, being one from most frequent the van der Woude syndrome which also have identified mutations in genes such as IRF6. Because CL / P is a highly complex etiology pathology where genetic alterations play an important role and where every day is more knowledge on alterations in several genes that contribute to the formation of the alteration, the aim of this article is review the current knowledge on the reported genetics of the CL/P and genes that would contribute to the development of this complex pathology.
RESUMO
OBJECTIVE: The World Health Organization has led the development of a Decision-Making Tool for Family Planning Clients and Providers (DMT) to improve the quality of family planning counseling. This study investigates the DMT's impact on health communication in Nicaragua. METHODS: Fifty nine service providers in Nicaragua were videotaped with 426 family planning clients 3 months before and 4 months after attending a training workshop on the DMT. The videotapes were coded for both provider and client communication. RESULTS: After the intervention providers increased their efforts to identify and respond to client needs, involve clients in the decision-making process, and screen for and educate new clients about the chosen method. While the DMT had a smaller impact on clients than providers, in general clients did become more forthcoming about their situation and their wishes. The DMT had a greater impact on sessions in which clients chose a new contraceptive method, as compared with visits by returning clients for a check-up or resupply. CONCLUSION: The DMT proved effective both as a job aid for providers and a decision-making aid for clients, regardless of the client's level of education. PRACTICE IMPLICATIONS: Job and decision-making aids have the potential to improve health communication, even or especially when clients have limited education and providers have limited training and supervision.