Publications by authors named "Indira Tirado-Hurtado"

Background: Myeloid sarcoma (MS) is a rare hematologic malignancy defined as an extramedullary tumor of immature granulocytic cells. It can occur as primary or and be associated with myelodysplasia or myeloproliferative neoplasms. The most frequent locations are the skin, lymph nodes and bones.

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COVID-19 pandemic is the more challenging public health emergency of the century, producing the collapse of health systems and unprecedented levels of morbidity and mortality around the world, especially in low resource settings. Patients with chronic diseases are the most affected, not only due to the high susceptibility to SARS-CoV-2 infection but also due to the decrease in opportunities for timely care. In this dark landscape, telemedicine, before limited to very specific scenarios, has become one of our main tools to manage cancer patients, particularly in Latin America where COVID-19 has had a strong impact on the public health.

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Blood banks in developing countries have limited capability to typify common blood groups creating disparities in the access to blood units for patients with rare blood genotypes. We report the case of a Peruvian woman with metastatic breast cancer with KELnull phenotype (K), a rare blood group characterized by the lack of expression of all Kell antigens on the red blood cells (RBCs). The molecular studies identified that the patient's RBCs were homozygous for the nonsense c.

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Breast cancer (BC) is a highly prevalent malignancy in Latin American women, most cases being diagnosed at locally advanced or metastatic stages when options for cancer care are limited. Despite its label as a public health problem in the region, Latin American BC patients face several barriers in accessing standard of care treatment when compared with patients from developed countries. In this review, we analyse the landscape of the four main identified barriers in the region: i) high burden of locally advanced/advanced BC; ii) inadequate access to medical resources; iii) deficient access to specialised cancer care and iv) insufficient BC research in Latin America.

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Helicobacter pylori (H. pylori) is a cosmopolite bacteria and the main responsible for the high burden of gastric cancer in developing countries, such as Peru. In this review, we describe some historical facts in the H.

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DNA damage inducible transcript 4 () gene is expressed under stress situations turning off the metabolic activity triggered by the mammalian target of rapamycin (mTOR). Several and works have demonstrated the ability of to generate resistance to cancer therapy. The link between the metabolism suppression and aggressiveness features of cancer cells remains poorly understood since anti-mTOR agents who are part of the repertoire of drugs used for systemic treatment of cancer achieving variable results.

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Article Synopsis
  • Huntington disease (HD) is a genetic disorder linked to a CAG repeat expansion in the Huntingtin gene, with different mutations observed across ethnic groups, particularly in Latin America.
  • A study of Peruvian HD families reveals that most HD cases are associated with an indigenous A1 HTT haplotype rather than the European variant, suggesting an indigenous origin for the HD mutation in mestizo American populations.
  • Around 14% of HD mutations in Peru are linked to a distinct C1 HTT haplotype of potential Amerindian ancestry, indicating that the majority of HD mutations in Latin America may derive from indigenous rather than European genetics, despite both ancestry allowing for similar therapeutic approaches.
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Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington’s Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD.

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Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the clinical, scientific and ethical aspects regarding the development of this discipline, starting with the first molecular diagnosis of neurogenetic diseases, to family and population-based genetic association studies. Neurogenetics in Peru aims to better explain the epidemiology of monogenic and complex neurodegenerative disorders that will help in implementing public health policies for these disorders.

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