Changes in the mass and function of the left ventricle after renal transplantation]

We undertook a study of cardiac function in 13 patients with end-stage renal disease with conventional echocardiography. Measurements in systolic and diastolic function were assessed before and after renal transplantation. Improvement in left ventricular mass was observed (mu +/- SD) from 362.4 +/- 150.2 to 178.4 +/- 62.4 (p less than 0.001), also in left ventricular mass index (left ventricular mass/body surface) from 229 +/- 86.3 to 115.6 +/- 41.3 (p less than 0.001), ejection fraction from 0.44 +/- .196 to 0.64 +/- .165 (p less than 0.01) and velocity of circumferential fiber shortening (mu +/- SD) from 19.5 +/- 11.04 to 31 +/- 11.6. Renal transplantation procedure induce favorable modifications in left ventricular functions. If cardiac dysfunction is present in a end stage renal disease patient, it should be not considered a contraindication for transplantation. We were unable to demonstrate that hemoglobin values play an important role in the development or maintenance left ventricular dysfunction. A prospective, larger and longer trails are needed to clarify the risk factors associated with cardiovascular morbid event.     

GEnomes Management Application (GEM.app): A New Software Tool for Large‐Scale Collaborative Genome Analysis

Novel genes are now identified at a rapid pace for many Mendelian disorders, and increasingly, for genetically complex phenotypes. However, new challenges have also become evident: (1) effectively managing larger exome and/or genome datasets, especially for smaller labs; (2) direct hands‐on analysis and contextual interpretation of variant data in large genomic datasets; and (3) many small and medium‐sized clinical and research‐based investigative teams around the world are generating data that, if combined and shared, will significantly increase the opportunities for the entire community to identify new genes. To address these challenges, we have developed GEnomes Management Application (GEM.app), a software tool to annotate, manage, visualize, and analyze large genomic datasets ( https://genomics.med.miami.edu/">https://genomics.med.miami.edu/">https://genomics.med.miami.edu/ ). GEM.app currently contains ～1,600 whole exomes from 50 different phenotypes studied by 40 principal investigators from 15 different countries. The focus of GEM.app is on user‐friendly analysis for nonbioinformaticians to make next‐generation sequencing data directly accessible. Yet, GEM.app provides powerful and flexible filter options, including single family filtering, across family/phenotype queries, nested filtering, and evaluation of segregation in families. In addition, the system is fast, obtaining results within 4 sec across ～1,200 exomes. We believe that this system will further enhance identification of genetic causes of human disease.     

Phylogenetic analysis of the first four SARS-CoV-2 cases in Chile

The current pandemic caused by the new coronavirus is a worldwide public health concern. To aboard this emergency, and like never before, scientific groups around the world have been working in a fast and coordinated way to get the maximum of information about this virus when it has been almost 3 months since the first cases were detected in Wuhan province in China. The complete genome sequences of around 450 isolates are available, and studies about similarities and differences among them and with the close related viruses that caused similar epidemics in this century. In this work, we studied the complete genome of the first four cases of the new coronavirus disease in Chile, from patients who traveled to Europe and Southeast Asia. Our findings reveal at least two different viral variants entries to Chilean territory, coming from Europe and Asia. We also sub-classified the isolates into variants according to punctual mutations in the genome. Our work contributes to global information about transmission dynamics and the importance to take control measures to stop the spread of the infection.     

NMDA-glutamate receptors regulate phosphorylation of dendritic cytoskeletal proteins in the hippocampus

Most forms of synaptic potentiation need the activation of the N-methyl-d-aspartate (NMDA) subtype of glutamate receptors which generate changes in dendritic morphology of postsynaptic neurons. Since microtubule proteins have an essential role in dendritic morphology, they may be involved and regulated during the modifications of dendritic morphology associated with synaptic potentiation. The phosphorylation of the microtubule-associated proteins (MAPs) has been analyzed in situ after activation or blockade of NMDA-glutamate receptors in hippocampal slices. The phosphorylation of MAP1B and MAP2 has been studied by using several antibodies raised against phosphorylation-sensitive epitopes. Whereas antibodies 125 and 305 recognize phosphorylated epitopes on MAP1B and MAP2, respectively, Ab 842 recognizes a phosphorylatable sequence on MAP1B only when it is dephosphorylated. NMDA treatment decreased the phosphorylation state of the epitope recognized by the antibody 305 on MAP2 and caused a slight dephosphorylation of MAP1B sequences recognized by Ab 125 and 842. Moreover, exposure to APV (an antagonist of NMDA-glutamate receptors) counteracted the effect of NMDA and induced an increase in the phosphorylation state of these sequences in MAP2. Since phosphorylation regulates the interaction of MAPs with cytoskeleton, the results suggest that the modulation of the phosphorylated state of MAP2 by NMDA-glutamate receptors may be implicated in dendritic plasticity.     

Orbito-Ethmoidal Rhabdomyosarcoma in an Adult Patient: A Case Report and Review of the Literature

We report a patient who presented to the ENT service complaining of nasal obstruction, exophthalmos, edema and ipsilateral facial congestion. Imaging studies revealed an aggressive noncalcified solid mass centered in the left nasoethmoidal region and heterogeneous avid enhancement following contrast media injection. Subsequently, a biopsy confirmed the presence of solid alveolar rhabdomyosarcoma. The patient was treated with chemoradiation therapy for 7 weeks. Due to the advanced stage of the disease, the patient was enrolled in a palliative care and pain control program.Key words: Computed tomography, Magnetic resonance imaging, Ethmoidal region, Rhabdomyosarcoma, Radiochemotherapy     

Sex and age differences in the impact of the forced swimming test on the levels of steroid hormones

Compared with the adult disorder, depression in children exhibits differences in its neurobiology, particularly in the HPA axis regulation. The bases of such differences can be evaluated in animal models of depression. The objective of the present study was to determine age and sex differences of Wistar rats in the forced swimming test (FST). The influence of sex and age on corticosterone, estrogens and testosterone serum levels was also determined. Prepubertal rats showed immobility, swimming and climbing behaviors during the pre-test and test sessions. In addition, in the prepubertal animals, no sex differences were found during the pre-test and test sessions. Age comparisons indicated no differences in the female groups, however adult males exhibited more immobility and less swimming than young males, in both FST sessions. The young and female rats showed less immobility behavior and increased levels of estrogens after the FST. The present results indicate that the FST is an animal model suitable to evaluate depressive-like behaviors in prepubertal subjects and to explore behavioral changes related to neurodevelopment.     

Difficulties of the negotiation process of the Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the application of biology and medicine (and a call for its adhesion)

Making an attempt to frame the controversial topic of bioethics within international law and with the aim of watching over the society, the Council of Europe elaborated the Convention for the Protection of Human Rights and Dignity of the Human Being with regard to the application of biology and medicine. The instrument, which came into force 12 years ago, is opened to all countries but only 29 states have ratified it. This legal document represents the base of a universal legislation on the subject. The present article examines the origin of the Convention, its process and evolution. It analyses the intense debates with regard to the human dignity, the freedom of science, the beginning of life, among others; equally it explores the interests at stake within the convention, whether political, moral, scientific, and economic, at the moment of its draft and in the present. Finally, the article analyses the possibility of the adoption of the Convention by the Mexican government. It concludes on the effectiveness of the international law of bioethics, and calls for the need that the Convention be used as a base for universal legislation.