66 research outputs found

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

    ANALISIS BIOETICO DE UN PACIENTE CON UN CASO CLÍNICO PERIODONCIA- ORTODONCIA

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    En el ejercicio diario, nos enfrentamos con situaciones en las cuales debemos aplicar no solamentenuestros conocimientos científicos y técnicos que competen a la odontología, sino también nuestracondición humana y vocación de servicio para atender, con responsabilidad y ética profesional, a nuestros pacientes.El propósito de este estudio surgió para concientizar la importancia de conocer los principios bioéticos, asícomo la actitud integral del odontólogo general y el especialista cuando se presenta un paciente porprimera vez o de emergencia a la consulta, y atenderlo no solo por la "emergencia" por la cual asiste,sino como un ser bio-psico-social.En nuestro caso, si el odontólogo general se hubiese limitado a atender al paciente solo por laemergencia que presentó y no hubiese orientado al paciente desde los principios bioéticos de benevolencia, beneficencia, no maleficencia, autonomía, consentimiento informado de tipo verbal yremitido al periodoncista, el paciente hubiese seguido en desconocimiento del estado real de sus condiciones bucales, evitando consecuencias indeseables.Los procedimientos básicos realizados en este artículo fueron la revisión bibliográfica y el estudio clínicodel caso.Igualmente hacemos énfasis en realizar todos los estudios diagnósticos necesarios para realizar nuestroprotocolo de tratamiento, ya que si no diagnosticamos correctamente, no podremos planificar eltratamiento correctamente y remitirlo al especialista si lo requiere.Concluimos en este estudio la importancia a que, tanto odontólogos generales como especialistas,aprendan a ver al paciente como un ser integral bajo los principios bio-éticos y aplicar el consentimiento informado de manera habitual en nuestra consulta.ABSTRACT:In exercising daily, we are faced with situations in which we must apply not only our scientific andtechnical knowledge that fall within dentistry, but also our human condition and vocation of service to meet with responsibility and professional ethics, to our patients.The purpose of this study was to raise awareness of the importance of knowing the bio-ethical principles,as well as the attitude and parcel of clinicians and experts when a patient presents for the first time or emergency consultation, and caring not only for the "Emergency" by which assists, but like a bio-psychosocial.In our case, if the general dentist had been limited to meet the patient only by the emergency and hadnot submitted oriented to the patient from the bioethical principles of benevolence, charity, not maleficencia, informed consent type of verbal and sent to periodontist The patient had remained inignorance of the real state of their oral conditions, avoiding undesirable consequences.The basic procedures in this article were the literature review and clinical study of the case.Likewise make all the emphasis on conducting diagnostic studies needed to carry out our treatmentprotocol, because if not properly diagnose, treat, we can't plan properly and know refer to a specialist if required.We conclude this study in the importance to both general dentists and specialists, learn to see the patientas an integral be under the bio-ethical principles and applying the informed consent on a regular basis inour consultatio

    Transition from intravenous to enteral ketamine for treatment of nonconvulsive status epilepticus

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    Abstract Background Nonconvulsive status epilepticus (NCSE) is a diagnosis that is often challenging and one that may progress to refractory NCSE. Ketamine is a noncompetitive N-methyl-d-aspartate antagonist that increasingly has been used to treat refractory status epilepticus. Current Neurocritical Care Society guidelines recommend intravenous (IV) ketamine infusion as an alternative treatment for refractory status epilepticus in adults. On the other hand, enteral ketamine use in NCSE has been reported in only 6 cases (1 adult and 5 pediatric) in the literature to date. Case presentation A 33-year-old woman with a history of poorly controlled epilepsy presented with generalized tonic-clonic seizures, followed by recurrent focal seizures that evolved into NCSE. This immediately recurred within 24 h of a prior episode of NCSE that was treated with IV ketamine. Considering her previous response, she was started again on an IV ketamine infusion, which successfully terminated NCSE. This time, enteral ketamine was gradually introduced while weaning off the IV formulation. Treatment with enteral ketamine was continued for 6 months and then tapered off. There was no recurrence of NCSE or seizures and no adverse events noted during the course of treatment. Conclusion This case supports the use of enteral ketamine as a potential adjunct to IV ketamine in the treatment of NCSE, especially in cases without coma. Introduction of enteral ketamine may reduce seizure recurrence, duration of stay in ICU, and morbidity associated with intubation

    Preoperative visual field deficits in temporal lobe epilepsy

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    Surgical resection and laser thermoablation have been used to treat drug resistant epilepsy with good results. However, they are not without risk. One of the most commonly reported complications of temporal lobe surgery is contralateral superior homonymous quadrantanopsia. We describe a patient with asymptomatic preoperative quadrantanopsia fortuitously discovered as part of our recently modified protocol to evaluate patients prior to temporal lobe epilepsy surgery. This visual field deficit was subtle and not detected on routine clinical neurological examination. While we understand that this is a single case, we advocate further study for more detailed preoperative visual field examinations to characterize the true incidence of postoperative visual field lesions

    Epilepsy and COVID 2021

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    Coronavirus 19 (COVID-19) has infected over 400 million people worldwide. Although COVID-19 causes predominantly respiratory symptoms, it can affect other organs including the brain, producing neurological symptoms. People with epilepsy (PWE) have been particularly impacted during the pandemic with decreased access to care, increased stress, and worsening seizures in up to 22% of them probably due to multiple factors. COVID-19 vaccines were produced in a record short time and have yielded outstanding protection with very rare serious side effects. Studies have found that COVID-19 vaccination does not increase seizures in the majority of PWE. COVID-19 does not produce a pathognomonic EEG or seizure phenotype, but rather 1 that can be seen in other types of encephalopathy. COVID-19 infection and its complications can lead to seizures, status epilepticus and post-COVID inflammatory syndrome with potential multi-organ damage in people without pre-existing epilepsy. The lack of access to care during the pandemic has forced patients and doctors to rapidly implement telemedicine. The use of phone videos and smart telemedicine are helping to treat patients during this pandemic and are becoming standard of care. Investment in infrastructure is important to make sure patients can have access to care even during a pandemic
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