Patched-Related Is Required for Proper Development of Embryonic Drosophila Nervous System.

Patched-related (Ptr), classified primarily as a neuroectodermal gene, encodes a protein with predicted topology and domain organization closely related to those of Patched (Ptc), the canonical receptor of the Hedgehog (Hh) pathway. To investigate the physiological function of Ptr in the developing nervous system, Ptr null mutant embryos were immunolabeled and imaged under confocal microscopy. These embryos displayed severe alterations in the morphology of the primary axonal tracts, reduced number, and altered distribution of the Repo-positive glia as well as peripheral nervous system defects. Most of these alterations were recapitulated by downregulating Ptr expression, specifically in embryonic nerve cells. Because similar nervous system phenotypes have been observed in hh and ptc mutant embryos, we evaluated the Ptr participation in the Hh pathway by performing cell-based reporter assays. Clone-8 cells were transfected with Ptr-specific dsRNA or a Ptr DNA construct and assayed for changes in Hh-mediated induction of a luciferase reporter. The results obtained suggest that Ptr could act as a negative regulator of Hh signaling. Furthermore, co-immunoprecipitation assays from cell culture extracts premixed with a conditioned medium revealed a direct interaction between Ptr and Hh. Moreover, in vivo Ptr overexpression in the domain of the imaginal wing disc where Engrailed and Ptc coexist produced wing phenotypes at the A/P border. Thus, these results strongly suggest that Ptr plays a crucial role in nervous system development and appears to be a negative regulator of the Hh pathway.

Síndrome de Gorlin-Goltz. Diagnóstico molecular, nuevos tratamientos / Gorlin-Goltz syndrome. Molecular diagnosis, new treatments

Introducción: El síndrome de Gorlin-Goltz o síndrome de carcinoma de nevo basocelular es un desorden hereditario autosómico dominante que predispone principalmente a la proliferación de múltiples carcinomas basocelulares, queratoquistes odontogénicos y defectos del desarrollo, causados por la mutación del gen Patched localizado en el cromosoma 9. Presentación del caso: Se reporta un paciente con características de este síndrome, en la clínica de COMF de la UNAM. El diagnóstico fue basado en los estudios clínicos, imagenológicos y moleculares. Conclusiones: El conocimiento de esta enfermedad puede orientarnos a la sospecha diagnóstica de lesión quística o premaligna en forma oportuna, lo que permite prevenir complicaciones y brindar un tratamiento integral para así mejorar la calidad de vida de este tipo de pacientes (AU)

Introduction: Gorlin-Goltz syndrome or cell-based nevus carcinoma syndrome is an autosomal dominant inherited disorder that predisposes mainly to the proliferation of multiple basal cell carcinomas, maxillary keratocysts and developmental defects, caused by the mutation of the Patched gene located on chromosome 9. Case presentation: A patient with specific characteristics compatible with this syndrome was reported in the COMF Department of the UNAM. The diagnosis was based on clinical studies, radiology and genetic studies. Conclusions: Knowledge of this problem can guide us to the diagnostic suspicion in a timely manner, thus preventing complications, and to provide an improved integral treatment of the quality of life of this type of patients (AU)

Queratoquiste odontogenico recurrente en paciente con sindrome de Gorlin-Goltz / Recurrent odontogenic keratocyst in patient with Gorlin-Goltz Syndrome

RESUMEN El Síndrome de Gorlin-Goltz (SGG) es un desorden autosómico dominante, se caracteriza por presentar anomalías esqueléticas, Queratoquistes Odontogénicos (QQOs) múltiples y carcinoma de células basales. Se han realizado estudios comparativos de los QQOs asociados y no asociados al SGG, y se encontró la presencia de mayor número de quistes satélites, proliferaciones sólidas del epitelio, inflamaciones, calcificaciones, más intensa ac-tividad mitótica de las células epiteliales, y mayor recurrencia de los QQOs asociados al SGG. El propósito de este reporte de caso es proporcionar una base objetiva para el manejo terapéutico de los QQOs en pacientes con SGG y una revisión de la literatura científica. Se presenta el caso de una paciente de 63 años, con antecedentes de SGG, sometida a múltiples intervenciones quirúrgicas, incluida exéresis de QQOs en ambos maxilares, que acudió a la consulta nueve años después de su última intervención para un control por la especialidad, donde se evidenció recurrencia de la lesión en maxilar superior derecho, realizándose enucleación, ostectomia periférica y aplicación de solución de Carnoy.

SUMMARY Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder characterized by skeletal abnormalities, multi-ple Keratocysts Odontogenic (KCOs) and basal cell carcinoma. Comparative studies of the associated KCOs and those not associated with the GGS have been performed, and the presence of a greater number of satellite cysts, solid proliferations of the epithelium, inflammations, calcifications, more intense mitotic activity of the epithelial cells, and greater recurrence of the KCOs associated with the GGS. The purpose of this case report is to provide an objective basis for the therapeutic management of KCOs in patients with GGS and a review of the scientifi c literature. We present the case of a 63-year-old patient, with a history of GGS, who underwent multiple surgical interventions, including exeresis of KCOs in both jaws, who came to the consultation, nine years after her last intervention, for an Odontostomatological check-up, finding KCO recurrent in upper right maxilla, performing enucleation, peripheral ostectomy and application of carnoy solution.