分子遺伝医学

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.

Spontaneous pneumothorax is regarded as a common and benign clinical entity, however, it can be life-threatening if it progress to tension pneumothorax. While tension pneumothorax can develop abruptly, cardiovascular compromise progress more gradually due to the existence of a compensatory mechanism. A 30-year-old Thai male, previously healthy, who presented with left-sided spontaneous pneumothorax. He informed physician that his mother was previously diagnosed as secondary pneumothorax and underwent pleurodesis. He underwent video-assisted thoracoscopic for pleurodesis. Additional investigation showed multiple lung cysts in Computerized Tomography Scan. Birt-Hogg Dube syndrome was confirmed genetically by FLCN gene mutation.

One of the most significant developments in cell and developmental biology in recent years has been the incredible interest in the potential of stem cells in regenerative medicine. ln spite of the ongoing political, ethical and scientific challenges interest in the potential clinical utility of stem continues to increase. Extraordinary developments in the field of stem cell research continued in developing disease-specific stem cell lines; advances were made in creating induced pluripotent stem (iPS) cell lines using technologies compatible with clinical use; and the US Food and Drug Administration (FDA) gave approval for the first clinical trial using cells derived from human embryonic stem cells (hESC) for the treatment of spinal cord injury. Both regenerative medicine and tissue engineering rely on the success of stem cell technology. Advances in the embryonic and adult stem cell research, particularly over the past two decades, have enabled cell-based therapies. Now it is also possible to genetically reprogram the somatic cells and induce pluripotency in them to function in a manner similar to embryonic stem cells. However, further studies on teratogenic or tumorigenic properties, cellular dose, cell proliferation, senescence, karyotyping, and immunosuppressive activity are essential to translate the technology into clinical application.