Medicina molecular y genética

Purpose: The aim of this review was to address the barriers limiting access to the use of molecular diagnostics, specifically KRAS testing for cancers with potential to benefit from targeted drugs in Brazil. A panel reviewed examples from current state and potential future uses of KRAS testing in cancer diagnosis and treatment designation.

Design: A selected panel of Brazilian experts in fields related to KRAS testing were provided with a series of relevant questions to address prior to the multi-day conference. Within this meeting, each narrative was discussed and edited by the entire group, through several drafts and rounds of discussion until a consensus was achieved.

Results: The authors propose specific and actionable recommendations for expanding access to KRAS testing use in cancer care in Brazil and in other countries, in a similar situation. In creating these recommendations, the authors strived to address all barriers and impediments mentioned previously within this review.

Conclusion: Given the current benefits and likely future applications, there is a great need to expand molecular testing and KRAS testing in Brazil, and adapting the current framework is essential to accomplishing this goal. Regulatory actions and increased knowledge and awareness to expand access to this technology have the potential to improve cancer patient care across the country. Therefore, the recommendations in this review can serve as an outline for technology adoption in Brazil and other countries with similar challenges in optimizing cancer care.

Pediatric neoplasms represent an important group of childhood diseases. Biomarkers with prognostic function can help to manage this complex process. In this context, the tissue expression of parkin, could be used as a prognostic biomarker for the individual in the main solid pediatric tumors. We aimed to investigate the correlation between the tissue expression of parkin and the clinical-pathological characteristics, and to determine if parkin can be used as a prognostic marker. We assessed immune histochemical analysis of parkin in five solid pediatric tumors. High tissue expression of parkin was associated with positive prognostic factors for astrocytoma’s and nephronblastomas, while in medulloblastomas and neuroblastomas; the same underlying aspect was associated with poor prognostic factors. Choroid plexus tumors showed no association. Parkin showed favorable behavior in patients with in astrocytoma’s and nephroblastomas. In medulloblastomas and neuroblastomas, results showed the opposite. Research may enable an analysis of the overall behavior of this molecule as a prognostic tool.

Apoptosis is a way for loss of unwanted cells during homeostasis, development, and integrity of tissues which is a process depending on caspases started through extrinsic and intrinsic or mitochondrial pathways. During a bioinformatics survey, important targeting miRs in both pathways have been identified. In the current study, due to common biochemical origin of apoptosis and differentiation, the role of hsa-miR-765 during the course of apoptosis induction and cardiomyocytes differentiation of hESCs have been investigated. We found the expression of BAX, BAK1, and BOK as the key elements of mitochondrial membrane pores involved in apoptosis induction and targeted by this miRNA during apoptosis and differentiation. All data represented here may disclose the imperative function of hsa-miR-765 in discrimination of biochemical aspect of differentiation and apoptosis of embryonic stem cells towards cardiomyocytes.

El neumotórax espontáneo se considera una entidad clínica común y benigna, sin embargo, puede ser potencialmente mortal si progresa a neumotórax a tensión. Si bien el neumotórax a tensión puede desarrollarse de manera abrupta, el compromiso cardiovascular progresa de manera más gradual debido a la existencia de un mecanismo compensatorio. Un hombre tailandés de 30 años, previamente sano, que presentó neumotórax espontáneo del lado izquierdo. Informó al médico que su madre había sido diagnosticada previamente con neumotórax secundario y se sometió a una pleurodesis. Se le realizó una toracoscopía asistida por video para pleurodesis. Una investigación adicional mostró múltiples quistes pulmonares en la tomografía computarizada. El síndrome de Birt-Hogg Dube se confirmó genéticamente por la mutación del gen FLCN.

Uno de los avances más significativos en biología celular y del desarrollo en los últimos años ha sido el increíble interés por el potencial de las células madre en la medicina regenerativa. A pesar de los desafíos políticos, éticos y científicos actuales, el interés por la posible utilidad clínica de las células madre sigue aumentando. En el campo de la investigación con células madre se han producido avances extraordinarios en el desarrollo de líneas de células madre específicas para enfermedades; se han logrado avances en la creación de líneas de células madre pluripotentes inducidas (iPS) utilizando tecnologías compatibles con el uso clínico; y la Administración de Alimentos y Medicamentos de los Estados Unidos (FDA) dio su aprobación para el primer ensayo clínico utilizando células derivadas de células madre embrionarias humanas (hESC) para el tratamiento de lesiones de la médula espinal. Tanto la medicina regenerativa como la ingeniería de tejidos dependen del éxito de la tecnología de células madre. Los avances en la investigación con células madre embrionarias y adultas, en particular durante las dos últimas décadas, han hecho posible las terapias basadas en células. Ahora también es posible reprogramar genéticamente las células somáticas e inducirles pluripotencia para que funcionen de manera similar a las células madre embrionarias. Sin embargo, son esenciales más estudios sobre las propiedades teratogénicas o tumorígenas, la dosis celular, la proliferación celular, la senescencia, el cariotipo y la actividad inmunosupresora para traducir la tecnología a una aplicación clínica.