Incontinencia Pigmenti: rara genodermatosis ligada con el cromosoma X. Reporte de un caso clínico / Incontinentia pigmenti: a rare X-linked genodermatosis. A case report / Incontinência pigmenti: rara genodermatose ligada com o cromossoma x. Reporte de um caso clínico

La incontinencia pigmenti (síndrome de Bloch-Sulzberger) es una genodermatosis rara causada por una mutación en el gen NEMO localizado en el cromosoma X. Las manifestaciones cutáneas son marcadoras de esta entidad y se dan de forma temprana y cronológica. El compromiso extra cutáneo se da hasta en el 80% de los casos y las alteraciones neurológicas y oftalmológicas son marcadores del pronóstico porque tienen el potencial de producir secuelas irreversibles. Se presenta el caso de una paciente que desde el primer día de vida inició con lesiones cutáneas que, con la evolución, desarrollaron características clásicas de una incontinencia pigmenti. Se resalta el antecedente familiar asociado, el compromiso neurológico extenso y la importancia de un manejo multidisciplinario.

Incontinentia pigmenti (Bloch-Sulzberger Syndrome) is a rare genodermatosis. The disease is X-linked and the most common molecular defect includes mutations in the NEMO gene on chromosome Xq28 in approximately 70% of patients. It is characterized by a multisystem compromise in which the skin manifestations occur in all patients. Also, the dermatological findings occur early and in chronological order. The prevalence of extra skin compromise is approximately 80% of patients. The ophthalmological and neurological manifestations are the major cause of disability in patients and may have a great impact on the quality of life. Some of damages are irreversible. We present the clinical case of a child on her first day of life. It began with skin manifestations typical of incontinentia pigmenti and extensive neurological involvement. In addition, the family history includes a sister with the disease. A multidisciplinary approach is necessary to care for patients and to detect and prevent long-term complications.

A incontinência pigmenti (síndrome de Bloch-Sulzberger) é uma genodermatose rara causada por uma mutação no gene NEMO localizado no cromossoma X. As manifestações cutâneas são marcadoras desta entidade E se dá de forma precoce e cronológica. O compromisso extra cutâneo se dá até em 80% dos casos e as alterações neurológicas e oftalmológicas são marcadores do prognóstico porque tem o potencial de produzir sequelas irreversíveis. Se apresenta o caso de uma paciente que desde o primeiro dia de vida iniciou com lesões cutâneas que, com a evolução, desenvolveram características clássicas de uma incontinência pigmenti. Se ressalta o antecedente familiar associado, o compromisso neurológico extenso e a importância de um manejo multidisciplinar.

Escala revisada-98 para valoración del delirium (DRS-R-98): adaptación colombiana de la versión española / Delirium rating scale-revised-98 (DRS-R-98): Colombian adaptation of the Spanish version

Introducción. El delirium es un trastorno con alta morbilidad y mortalidad asociadas. En Colombia no hay instrumentos validados para la evaluación y seguimiento de este síndrome. Métodos. Un panel de expertos adaptó la DRS-R-98 española. En 110 pacientes medicoquirúrgicos hospitalizados elegidos al azar, 17 (15,5 %) de ellos con delirium, según los criterios del DSM-IV-TR, fue estimada la fiabilidad interevaluador, validez y sensibilidad al cambio clínico de la nueva adaptación de la escala. Resultados. La consistencia interna (α de Cronbach 0,956), la fiabilidad interevaluador (CCI: 0,95) y la validez (área bajo la curva ROC del 94,8 %) fueron muy buenas. Para el punto de corte de 14 en la escala total la sensibilidad fue 82,4 % y la especificidad 97,8 %. La escala fue sensible al cambio clínico; diferencia de media: 12,9 (t: 4,071; p=0,007). Conclusiones. La adaptación colombiana de la DRS-R-98 española es sensible, específica y fiable para la evaluación del delirium en adultos hospitalizados por causas medicoquirúrgicas

Introduction. Delirium is associated with high morbidity and mortality. There are no available instruments validated for evaluation and follow-up of this syndrome in Columbia. Methods. An expert's panel adapted the Spanish DRSR- 98. In 110, randomly selected, medical-surgical hospitalized patients, 17 (15.5 %) of them with delirium diagnosed with DSM-IV-TR criteria, the inter-rater reliability, validity and sensitivity to clinical change of the new adaptation of the scale were measured. Results. Internal consistency (Cronbach's α: 0.956), inter- rater reliability (ICC: 0.95) and validity (94.8 % under the ROC curve area) were very good. For the Cut-off score of 14 for the total scale score, sensitivity was 82.4% and specificity 97.8 %. The scale was sensitive to clinical change, with a mean difference of 12.9 (t: 4.071; p=0.007). Conclusions. The Colombian adaptation of the Spanish DRS-R-98 is sensitive, specific and reliable for assessment of delirium in hospitalized adults in medical surgical settings

Study of proliferation and apoptosis in neuroblastoma. Their relation with other prognostic factors.

BACKGROUND: Our objective was to study the proliferation and apoptotic process in 111 cases of neuroblastoma (NB) and to seek their relationship with other prognostic factors and survival. METHODS: Immunohistochemistry following ABC peroxidase was carried out for PCNA, Ki-67, bcl-2, and p53 proteins. Apoptosis analysis was performed with in situ detection of chromosomal breakdown. Molecular detection of DNA ladders by electrophoresis and amplification of MYCN was studied with PCR and Southern blot. Statistical study was performed with Pearson chi(2) and Kruskal-Wallis tests and Cox regression. RESULTS: Our results indicate that proliferative factors PCNA and Ki-67 were correlated to each other as well as to advanced stage and MYCN amplification. Regarding apoptosis, we found expression of bcl-2 protein in cases of NB without differentiation and advanced stages. p53 protein showed an inverse relation with bcl-2 and cell death measured by assay protein. In situ determination of apoptosis was found mainly in differentiated and stage 4s cases. Multivariate analysis revealed protein as the most independent risk factor of our study. CONCLUSIONS: The study of cellular proliferation and apoptosis contributes with information of prognostic value that could be applied to the design of different protocols for treatment of neuroblastoma.