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Fibrodysplasia ossificans progressiva (FOP), a disabling disorder of progressive heterotopic ossification (HEO), is caused by heterozygous gain-of- function mutations in Activin receptor A, type I (ACVR1, also known as ALK2), a bone morphogenetic protein (BMP) type I receptor. Presently, symptomatic management is possible, but no definitive treatments are available. Although extensive guidelines for symptomatic management are widely used, regional preferences exist. In order to understand if there was worldwide consensus among clinicians treating FOP patients, an expert panel of physicians directly involved in FOP patient care was convened. Using a modified Delphi method, broad international consensus was reached on four main topics: diagnosis, prevention of flare-ups, patient and family-centered care and general clinical management issues. This study of physician preferences provides a basis for standardization of clinical management for FOP.

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare progressive genetic disease effecting one in a million individuals. During their life, patients with FOP progressively develop bone in the soft tissues resulting in increasing immobility and early death. A mutation in the ACVR1 gene was identified as the causative mutation of FOP in 2006. After this, the pathophysiology of FOP has been further elucidated through the efforts of research groups worldwide. In 2015, a workshop was held to gather these groups and discuss the new challenges in FOP research. Here we present an overview and update on these topics.

In Argentina, there was not an adapted and validated instrument to evaluate readiness for the transition to adult health care. The purpose of this study was to describe the process of cross-cultural adaptation of the Transition Readiness Assessment Questionnaire 5.0 to Argentinian Spanish. The authors of the instrument were contacted to this effect. Stage 1: two translators performed the translation to Spanish. Stage 2: based on these two versions, version 1 was agreed upon. Stage 3: two back-translations were performed. Stages 4 and 5: both back-translated versions were compared, and the Spanish version was adapted to ensure correspondence with the original. Subheads were added in each domain, and version 2 was obtained. Stage 6: the questionnaire was field tested to ensure the cultural adequacy of the vocabulary, thus obtaining version 3. In the last stage (stage 7), the instrument was tested in two hospitals. Finally, the cross-cultural adaptation of the Transition Readiness Assessment Questionnaire 5.0 for the Argentinian population was obtained.

RESUMENCada vez más adolescentes con enfermedades crónicas y requerimientos médicos especiales alcanzan la vida adulta. Muchos pasan a la atención de la medicina del adulto en forma abrupta, ya sea por haber cumplido una determinada edad, o por una descompensación aguda que motiva una internación en un hospital de adultos. La preparación para ese pasaje y la coordinación de la atención entre el grupo pediátrico y el de adultos es fundamental para facilitar el proceso de transición, que debe asegurar la misma calidad y continuidad en la atención de esos pacientes. En este artículo se revisan los problemas que se presentan durante ese proceso y se describen las etapas recomendadas para la implementación de una transición satisfactoria. Asimismo, se describen los aspectos principales de un programa que hemos implementado en nuestro hospital. Palabras clave: transición, enfermedades crónicas, adolescencia. ABSTRACTThe number of adolescent patients with chronic diseases and special heath needs are increasing, and they are reaching adulthood. Sometimes the passage to the adult health care is abrupt, depending upon the chronological age reached or because of an acute health problem that requires hospitalization. In order to facilitate the transition process, preparation of the child, the family and the health professionals involved is needed, as well as the coordination between the pediatric group and the adult team that will be incharge of the patient. This review shows the obstacles to this process and the recommended implementation steps required to a successful transition. It also describes the main aspects of a program that we implemented at the Hospital Italiano de Buenos Aires in conjunction with some departments of adult health care high lighting the main steps to follow before and during program´s implementation.

Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disease, in which soft connective tissue is converted into heterotopic bone through an endochondral ossification process. Patients succumb early as they gradually become trapped in a second skeleton of heterotopic bone. Although the underlying genetic defect is long known, the inherent complexity of the disease has hindered the discovery of effective preventions and treatments. New developments in the gene therapy field have motivated its consideration as an attractive therapeutic option for FOP. However, the immune system's role in FOP activation and the as-yet unknown primary causative cell, are crucial issues which must be taken into account in the therapy design. While gene therapy offers a potential therapeutic solution, more knowledge about FOP is needed to enable its optimal and safe application.

Adaptación transcultural del cuestionario de transición a la atención médica del adulto al castellano argentino Cross-cultural adaptation of the Transition Readiness Assessment Questionnaire to Argentinian Spanish RESUMEN En Argentina, no había un instrumento adaptado y validado de preparación para la transición. El objetivo fue describir el proceso de adaptación transcultural del Transition Readiness Assessment Questionnaire 5.0 al español argentino. Para ello, se contactó a los autores del cuestionario. Etapa 1: dos traductores lo tradujeron al castellano. Etapa 2: a partir de esas versiones, se consensuó la versión 1. Etapa 3: se realizaron dos retrotraducciones. Etapas 4 y 5: se compararon ambas versiones en inglés y se adaptó la versión en castellano para asegurar la equivalencia con la original. Se agregaron los subtítulos de cada dominio y se obtuvo la versión 2. Etapa 6: se realizó una prueba de campo para determinar si el vocabulario era culturalmente adecuado. Se obtuvo la versión 3. En la última etapa (etapa 7), se probó el cuestionario en dos hospitales. Finalmente, se obtuvo la traducción y adaptación del Transition Readiness Assessment Questionnaire 5.0 para la población argentina. Palabras clave: transición a la atención de adultos, encuestas y cuestionarios, enfermedades crónicas, adolescencia, comparación transcultural.