Workshop for Basic Gynaecological Examinations: Improving Medical Student Learning through Clinical Simulation.

INTRODUCTION: This study was designed to evaluate whether the Workshop on Basic Principles for Clinical Gynaecological Exploration, offered to medical students, improves theoretical-practical knowledge, safety, confidence, global satisfaction and the achievement of the proposed objectives in the area of gynaecological clinical examinations. MATERIALS AND METHODS: This was a quasi-experimental pre-post-learning study carried out at the Gynaecology and Obstetrics department of Gregorio Marañón Hospital in Madrid (Spain). The volunteer participants were 4th-year students earning a degree in Medicine during the 2020-2021 and 2021-2022 academic years. The study period was divided into the following stages: pre-workshop, intra-workshop and 2 weeks post-workshop. In the pre-workshop stage, students completed a brief online course to prepare for the workshop. The effectiveness of the workshop was evaluated through multiple-choice tests and self-administered questionnaires to assess self-assurance, self-confidence, self-satisfaction and the achievement of the objectives. RESULTS: Of the 277 students invited in both academic years, 256 attended the workshop (92.4%), with a total participation in the different stages of the study greater than 70%. A total of 82.5% of the students in the 2020-2021 academic year and 80.6% of students in the 2021-2022 academic year did not have any type of experience performing gynaecological clinical examinations. Between the pre-workshop and 2 weeks post-workshop stages, there was significant improvement in theoretical-practical knowledge (improvement mean = 1.38 and 1.21 in 2020-2021 and 2021-2022 academic years, respectively). The security and confidence of the students prior to the workshop were low (average scores less than 5 points) in both academic years. However, post-workshop scores for satisfaction and the achievement of objectives were high in the two academic years; all the values approached or exceeded 8 points. CONCLUSIONS: Our students, after outstanding participation, evaluated the BPCGE, and improved their theoretical and practical knowledge, as well as their skills in a gynaecological clinical examination. Moreover, in their view, after the workshop, they felt very satisfied, far outreaching the proposed aims. In addition, excellent results were maintained over time, year after year.

Importancia del microbioma en la salud humana y aplicaciones médicas / Importance of the microbiome in human health and medical implications

Recientes investigaciones han relacionado la microbiota intestinal con la salud humana en múltiples aspectos. La evolución de los estilos de vida ha determinado un cambio en la composición de las bacterias intestinales, así como la implicación que la comunidad de estas ejerce sobre la salud. Actualmente, se conoce que la mayoría de las bacterias presentes en el sistema gastrointestinal pertenecen principalmente a los fila Firmicutes y Bacterioidetes, aunque también se encuentran otros grupos tales como proteobacterias y actinobacterias. A medida que se avanza en el tracto gastrointestinal predominan algunos géneros de bacterias. Los efectos de la microbiota pueden ser directos e indirectos, además, dependen de muchos factores tales como la edad de la persona, el grupo etario, la genética del individuo, la dieta y el estilo de vida. Durante los últimos años, la accesibilidad a tecnologías de secuenciación ha permitido tener un acercamiento más estrecho a la microbiota intestinal. Esto, sumado a herramientas bioinformáticas, ha permitido establecer relaciones microbiales entre la cantidad y estructura poblacional y las manifestaciones clínicas en el ser humano. Algunas de las afecciones estudiadas y que tienen relación con la microbiota intestinal son: la obesidad, la diabetes, el cáncer, las enfermedades relacionadas con el cerebro, las enfermedades cardiovasculares y las enfermedades gastrointestinales. De acuerdo con lo mencionado, se hizo una recopilación de información de carácter científico en cuanto a estudios relevantes que describen la relación microbiota-salud humana y casos donde se observa compromiso del organismo, al mismo tiempo que se describen opciones terapéuticas propuestas y un abordaje de perspectivas futuras.

Recent research has linked gut microbiota to human health in multiple ways. The evolution of lifestyles has determined a change in the composition of intestinal bacteria, as well as the implications that they exert on health. Currently, it is known that most of the bacteria present in the gastrointestinal sector belong mainly to the phylum Firmicutes and Bacterioidetes, although there are also other groups such as proteobacteria and actinobacteria. As it progresses through the gastrointestinal tract, some genera of bacteria and species predominate. The effects of the microbiota can be direct and indirect, and also depend on many factors such as the age of the person, the age group, the individual's genetics, diet, and lifestyle. In recent years, accessibility to sequencing technologies has allowed for a closer approach to the intestinal microbiota. This, added to bioinformatic tools has allowed establishing microbial relationships in terms of quantity and population structure with clinical manifestations in humans. Some of the pathologies studied that are related to intestinal microbiota are obesity, diabetes, cancer, brain-related diseases, cardiovascular diseases, and gastrointestinal diseases. A compilation of scientific information is made regarding relevant studies that describe the microbiota-human health relationship, cases where the organism is affected, as well as proposed therapeutic options and an approach to future perspectives

Smartphone-based Ecological Momentary Intervention for secondary prevention of suicidal thoughts and behaviour: protocol for the SmartCrisis V.2.0 randomised clinical trial.

INTRODUCTION: Suicide is one of the leading public health issues worldwide. Mobile health can help us to combat suicide through monitoring and treatment. The SmartCrisis V.2.0 randomised clinical trial aims to evaluate the effectiveness of a smartphone-based Ecological Momentary Intervention to prevent suicidal thoughts and behaviour. METHODS AND ANALYSIS: The SmartCrisis V.2.0 study is a randomised clinical trial with two parallel groups, conducted among patients with a history of suicidal behaviour treated at five sites in France and Spain. The intervention group will be monitored using Ecological Momentary Assessment (EMA) and will receive an Ecological Momentary Intervention called 'SmartSafe' in addition to their treatment as usual (TAU). TAU will consist of mental health follow-up of the patient (scheduled appointments with a psychiatrist) in an outpatient Suicide Prevention programme, with predetermined clinical appointments according to the Brief Intervention Contact recommendations (1, 2, 4, 7 and 11 weeks and 4, 6, 9 and 12 months). The control group would receive TAU and be monitored using EMA. ETHICS AND DISSEMINATION: This study has been approved by the Ethics Committee of the University Hospital Fundación Jiménez Díaz. It is expected that, in the near future, our mobile health intervention and monitoring system can be implemented in routine clinical practice. Results will be disseminated through peer-reviewed journals and psychiatric congresses. Reference number EC005-21_FJD. Participants gave informed consent to participate in the study before taking part. TRIAL REGISTRATION NUMBER: NCT04775160.

Real-world feasibility and acceptability of real-time suicide risk monitoring via smartphones: A 6-month follow-up cohort.

Active and passive Ecological Momentary Assessment of suicide risk is crucial for suicide prevention. We aimed to assess the feasibility and acceptability of active and passive smartphone-based EMA in real-world conditions in patients at high risk for suicide. We followed 393 patients at high risk for suicide for six months using two mobile health applications: the MEmind (active) and the eB2 (passive). Retention with active EMA was 79.3% after 1 month and 22.6% after 6 months. Retention with passive EMA was 87.8% after 1 month and 46.6% after 6 months. Satisfaction with the MEmind app, uninstalling the eB2 app and diagnosis of eating disorders were independently associated with stopping active EMA. Satisfaction with the eB2 app and uninstalling the MEmind app were independently associated with stopping passive EMA. Smartphone-based active and passive EMA are feasible and may increase accessibility to mental healthcare.

COVID-19 en pediatría: valoración crítica de la evidencia / COVID-19: Critical appraisal of the evidence

Presentamos el resumen de un documento de valoración crítica de la evidencia disponible sobre la COVID-19, elaborado con formato de guía de práctica clínica siguiendo la metodología GRADE. El documento trata de dar respuestas a una serie de preguntas clínicas estructuradas, con definición explícita de la población, intervención/exposición, comparación y resultado, y una jerarquización de la importancia clínica de las medidas de efecto valoradas. Realizamos revisiones sistemáticas de la literatura para responder a las preguntas, agrupadas en 6 capítulos: epidemiología, clínica, diagnóstico, tratamiento, prevención y vacunas. Valoramos el riesgo de sesgo de los estudios seleccionados con instrumentos estándar (RoB-2, ROBINS-I, QUADAS y Newcastle-Ottawa). Elaboramos tablas de evidencia y, cuando fue necesario y posible, metaanálisis de las principales medidas de efecto. Seguimos el sistema GRADE para realizar síntesis de la evidencia, con valoración de su calidad y, cuando se consideró apropiado, emitir recomendaciones jerarquizadas en función de la calidad de la evidencia, los valores y preferencias, el balance entre beneficios, riesgos y costes, la equidad y la factibilidad. (AU)

We present the summary of a critical appraisal document of the available evidence on COVID-19, developed with a clinical practice guide format following GRADE methodology. The document tries to provide answers to a series of structured clinical questions, with an explicit definition of the population, intervention/exposure, comparison and outcome, and a rating of the clinical relevance of the outcome measures. We conducted a systematic review of the literature to answer the questions, grouped into six chapters: epidemiology, clinical practice, diagnosis, treatment, prevention, and vaccination. We assessed the risk of bias of the selected studies with standard instruments (RoB-2, ROBINS-I, QUADAS and Newcastle-Ottawa). We constructed evidence tables and, when necessary and possible, meta-analysis of the of the most relevant outcome measures. We followed the GRADE system to synthesize the evidence, assessing its quality, and, when appropriate, giving recommendations, rated according to the quality of the evidence, the values and preferences, the balance between benefits, risks and costs, equity and feasibility. (AU)

COVID-19: Critical appraisal of the evidence.

We present the summary of a critical appraisal document of the available evidence on COVID-19, developed with a clinical practice guide format following GRADE methodology. The document tries to provide answers to a series of structured clinical questions, with an explicit definition of the population, intervention / exposure, comparison and outcome, and a rating of the clinical relevance of the outcome measures. We conducted a systematic review of the literature to answer the questions, grouped into six chapters: epidemiology, clinical practice, diagnosis, treatment, prevention, and vaccination. We assessed the risk of bias of the selected studies with standard instruments (RoB-2, ROBINS-I, QUADAS and Newcastle-Ottawa). We constructed evidence tables and, when necessary and possible, meta-analysis of the of the most relevant outcome measures. We followed the GRADE system to synthesise the evidence, assessing its quality, and, when appropriate, giving recommendations, rated according to the quality of the evidence, the values and preferences, the balance between benefits, risks and costs, equity and feasibility.

Patients at high risk of suicide before and during a COVID-19 lockdown: ecological momentary assessment study.

The coronavirus disease 2019 (COVID-19) outbreak may have affected the mental health of patients at high risk of suicide. In this study we explored the wish to die and other suicide risk factors using smartphone-based ecological momentary assessment (EMA) in patients with a history of suicidal thoughts and behaviour. Contrary to our expectations we found a decrease in the wish to die during lockdown. This is consistent with previous studies showing that suicide rates decrease during periods of social emergency. Smartphone-based EMA can allow us to remotely assess patients and overcome the physical barriers imposed by lockdown.

La neuroanatomía y neurofisiología en la comprensión de los trastornos del espectro autista / Neuroanatomy and neurophysiology in the study of autism spectrum disorders

Introducción: Los trastornos de espectro autista se caracterizan por presentar un déficit en la interacción y comunicación social con presencia de patrones repetitivos y restrictivos de comportamiento, intereses y actividades. En ellos estarían implicadas causas genéticas, ambientales y del desarrollo del sistema nervioso central. Un mayor conocimiento de la neuroanatomía y la neurofisiología ayudaría a comprender mejor este trastorno del neurodesarrollo. Objetivo: Profundizar en el conocimiento neuroanatómico y neurofisiológico de los trastornos del espectro autista. Métodos: Se realizó una búsqueda bibliográfica acerca del tema en las bases de datos LILACS, Scopus, SciELO, Pubmed, Medigraphic. Se escogieron 13 documentos, todos correspondientes a artículos originales que abordan el tema desde diferentes aristas. De los documentos, dos fueron localizados en Scopus, uno en Pubmed, cuatro en Medigrafhic, dos en LILACS y cuatro en SciELO. Resultados: Los trastornos de espectro autista se producen por una alteración estructural y funcional de la corteza cerebral. Los estudios de neuroimágenes han demostrado las alteraciones estructurales, fundamentalmente en la corteza prefrontal y sus conexiones, principal región encefálica implicada en la regulación de la conducta social. Las técnicas de secuenciación genómica de nueva generación muestran el origen genético en casos donde los estudios previamente señalados han resultado ser normales. Conclusiones: La profundización del conocimiento neuroanatómico y neurofisiológico de los trastornos de espectro autista permiten comprenderlos mejor(AU)

Introduction: Autism spectrum disorders are characterized by social deficits and communication difficulties, as well as restrictive, repetitive behavior patterns, interests and activities. Their causes may be genetic, environmental or related to the development of the central nervous system. Broader knowledge about neuroanatomy and neurophysiology could lead to a better understanding of this neurodevelopmental disorder. Objective: Gain insight into the neuroanatomy and neurophysiology of autism spectrum disorders. Methods: A bibliographic search about the topic was conducted in the databases LILACS, Scopus, SciELO, Pubmed and Medigraphic. A total 13 documents were selected, all of which were original papers approaching the topic from different perspectives. Two of the documents were obtained from Scopus, one from Pubmed, four from Medigraphic, two from LILACS and four from SciELO. Results: Autism spectrum disorders are caused by a structural and functional alteration of the cerebral cortex. Neuroimaging studies have shown the structural alterations, which mainly occur in the prefrontal cortex and its connections, the principal encephalic region involved in social behavior regulation. New generation genomic sequencing techniques reveal a genetic origin in cases where previous studies have been normal. Conclusions: Broader knowledge about the neuroanatomy and neurophysiology of autism spectrum disorders lead to their better understanding(AU)

[COVID-19: Critical appraisal of the evidence]. / COVID-19 en pediatría: valoración crítica de la evidencia.

We present the summary of a critical appraisal document of the available evidence on COVID-19, developed with a clinical practice guide format following GRADE methodology. The document tries to provide answers to a series of structured clinical questions, with an explicit definition of the population, intervention/exposure, comparison and outcome, and a rating of the clinical relevance of the outcome measures. We conducted a systematic review of the literature to answer the questions, grouped into six chapters: epidemiology, clinical practice, diagnosis, treatment, prevention, and vaccination. We assessed the risk of bias of the selected studies with standard instruments (RoB-2, ROBINS-I, QUADAS and Newcastle-Ottawa). We constructed evidence tables and, when necessary and possible, meta-analysis of the of the most relevant outcome measures. We followed the GRADE system to synthesize the evidence, assessing its quality, and, when appropriate, giving recommendations, rated according to the quality of the evidence, the values and preferences, the balance between benefits, risks and costs, equity and feasibility.

Capacitación para el enfrentamiento a la COVID-19 en Camagüey / Training for confrontation to the COVID-19 in Camagüey

RESUMEN Fundamento: en diciembre de 2019, las autoridades de China, reportaron un conglomerado de 27 casos de Síndrome Respiratorio Agudo, de etiología desconocida; su expansión por el mundo no remite y la OMS la declara pandemia el 11 de marzo, por lo que el sistema nacional de salud cubano recomendó capacitar de forma temprana y escalonada a los profesionales, técnicos, trabajadores y estudiantes del Sistema Nacional de Salud. Objetivo: describir los resultados de la capacitación desarrollada por el Departamento de Posgrado de la Universidad de Ciencias Médicas de Camagüey para el enfrentamiento a la COVID-19. Métodos: estudio descriptivo sobre capacitación desarrollada en tres etapas, desde el 11 de febrero al 30 de abril, con un universo de 71 516 profesionales de la salud, estudiantes de las ciencias médicas y otros sectores. Las variables cualitativas se resumieron en números absolutos y porciento. Resultados: en la primera etapa del universo se capacitó el 88,0 %, en la segunda etapa más del 99,0 % de su población y para la tercera sobresale el cumplimiento en los estudiantes de primer año en las carreras de las ciencias médicas. Conclusiones: la capacitación es un proceso continuo, por etapas y dirigida a grupos específicos, en dependencia de las necesidades de aprendizaje lo cual permitió que un número elevado de profesionales de la salud, así como de otros sectores y organismos estuviesen más preparados para el enfrentamiento a esta situación epidemiológica.

ABSTRACT Background: in December of 2019, the authorities of China, reported a conglomerate of 27 cases of Sharp Breathing Syndrome, of unknown etiology; its expansion for the world doesn't remit and the OMS declares it pandemic March 11, for what the Cuban national system of health recommended to qualify in an early way and staggered the professionals, technicians, workers and students of the National System of Health. Objective: to describe the results of the training developed by the Department of Posgrado of the University of Medical Sciences of Camagüey for the confrontation to the COVID-19. Methods: descriptive study on training developed in threestages,from February 11 at April 30, with an universe of 71 516 professionals of the health, students of the medical sciences and other sectors. The qualitative variables were summarized by absolute numbers and percent. Results: in the first stage of the universe 88 % was qualified, in the second stage more than its population's 99 %, finally the execution stands out in the first year-old students in the careers of the medical sciences. Conclusions: the training is a continuous process, for stages and directed to specific groups, in dependence of the learning necessities that which allowed that a high number of professionals of the health, as well as of other sectors and organisms is prepared for the confrontation to this epidemic situation.

Etiología, manifestaciones clínicas y estudio por imágenes de la displasia ectodérmica: Una revisión de la literatura / Etiology, clinical manifestations and study by images of ectodermal dysplasia: a literature review

La displasia ectodérmica (DE) es un trastorno hereditario multisistémico que involucra dos o más de las estructuras ectodérmicas, que incluyen alteraciones en la piel, cabello, uñas, dientes y glándulas sudoríparas. Las manifestaciones bucales más frecuentes son alteraciones dentarias en número y forma, como anodoncias e hipodoncias en ambas denticiones, gérmenes dentarios distróficos, dientes impactados, en forma de clavija, conoides, microdoncia, diastemas, etc. El diagnóstico clínico siempre va acompañado de estudios imagenológicos y, según la edad en que se diagnostique, el tratamiento siempre estará dirigido a restablecer y mejorar la calidad de vida. El objetivo de este trabajo es revisar la etiología, las manifestaciones clínicas y las características imagenológicas observadas en radiografías panorámicas, laterales de cráneo, cefalometrías y tomografías computarizadas de haz cónico (TCHC), con la finalidad de contribuir y ser parte del manejo multidisciplinario para lograr diagnósticos y tratamientos seguros y confiables. (AU)

Etiología, manifestaciones clínicas y estudio por imágenes de la displasia ectodérmica: Una revisión de la literatura / Etiology, clinical manifestations and study by images of ectodermal dysplasia: a literature review

La displasia ectodérmica (DE) es un trastorno hereditario multisistémico que involucra dos o más de las estructuras ectodérmicas, que incluyen alteraciones en la piel, cabello, uñas, dientes y glándulas sudoríparas. Las manifestaciones bucales más frecuentes son alteraciones dentarias en número y forma, como anodoncias e hipodoncias en ambas denticiones, gérmenes dentarios distróficos, dientes impactados, en forma de clavija, conoides, microdoncia, diastemas, etc. El diagnóstico clínico siempre va acompañado de estudios imagenológicos y, según la edad en que se diagnostique, el tratamiento siempre estará dirigido a restablecer y mejorar la calidad de vida. El objetivo de este trabajo es revisar la etiología, las manifestaciones clínicas y las características imagenológicas observadas en radiografías panorámicas, laterales de cráneo, cefalometrías y tomografías computarizadas de haz cónico (TCHC), con la finalidad de contribuir y ser parte del manejo multidisciplinario para lograr diagnósticos y tratamientos seguros y confiables. (AU)

Ectodermal dysplasia (ED) is a multi-systemic hereditary disorder, involving two or more of the ectodermal structures, which includes alterations in the skin, hair, nails, teeth and sweat glands.The most frequent oral manifestations are dental alterations in number and form such as: anodontias and hypodontias in both primary and permanent dentitions, dystrophic tooth buds, impacted, peg-shaped, conoid teeth, microdontia, dias-tema, etc. Clinical diagnosis is always accompanied by imaging studies and depending on the age at time of diag-nosis, treatment is aimed at restoring and improving quality of life.The objective of this study is to review the etiology, clinical manifestations and imaging characteristics observed in panoramic and lateral skull radio-graphs, cephalometry and cone beam computed tomography (CBCT), in order to contribute to multidisciplinary manage-ment, diagnoses, and safe and reliable treatments. (AU)

The Neurobiology of Borderline Personality Disorder.

This article reviews the most salient neurobiological information available about borderline personality disorder (BPD) and presents a theoretic model for what lies at the heart of BPD that is grounded in those findings. It reviews the heritability, genetics, and the biological models of BPD, including the neurobiology of affective instability, impaired interoception, oxytocin and opiate models of poor attachment or interpersonal dysfunction, and structural brain imaging over the course of development in BPD; and posits that the core characteristic of BPD may be an impairment in emotional interoception or alexithymia.

Utilización y positividad de exámenes complementarios de laboratorio en el hospital provincial de Las Tunas / Use and positivity of laboratory tests at Las Tunas provincial hospital

Fundamento: los laboratorios deben ofrecer exámenes que apoyen a los médicos en su práctica clínica, brindando información para el diagnóstico, la prevención o el tratamiento de enfermedades. Objetivo: describir la utilización de los exámenes que han estado a disposición de los médicos de asistencia, y su positividad, en los laboratorios del Hospital General Docente Dr. Ernesto Guevara de la Serna, durante el año 2016 y primer cuatrimestre de 2017. Métodos: se realizó un estudio descriptivo transversal en los laboratorios y tiempo ya definidos. Se empleó la información de los registros de los laboratorios y en el departamento de estadísticas. Se analizó la procedencia de los pacientes, los exámenes realizados y la positividad de los mismos. Los datos se procesaron según la estadística descriptiva. Resultados: en el laboratorio central se realizó el mayor número de exámenes (41,2 por ciento), particularmente a los pacientes ingresados (42,3 por ciento). De 39792 muestras procesadas en el laboratorio SUMA (sistema ultramicroanalítico), las determinaciones del VIH fueron el 36,8 por ciento, el antígeno prostático específico total 26,1 por ciento y del virus de la hepatitis B 13 por ciento. La positividad resultó más baja en los casos de pacientes procedentes de consulta externa y urgencias, mientras en el laboratorio de Inmunología fue alta, sobre todo en inmunocomplejos circulantes (31,2 por ciento), ANCA (28,1 por ciento) y ANA (23 por ciento). Conclusiones: existe una alta demanda de exámenes de laboratorios. La positividad de los realizados a pacientes procedentes de consulta externa fue reducida. Los exámenes realizados del departamento de inmunología tuvieron la mayor positividad(AU)

Background: the laboratories must offer the tests to aid doctors in their clinical practice, providing them with the information for the diagnosis, prevention or treatment of diseases. Objective: to describe the use of tests which have been at the doctors disposal, as well as their positivity, at the laboratories of the Dr. Ernesto Guevara de la Serna General Teaching Hospital during 2016 and the first four-month period of 2017.Methods: a descriptive, cross-sectional study was carried out at the aforementioned laboratories and period of time. The information from the lab registers and from the department of statistics was used. The origin of the patients, the tests ordered and their positivity were analyzed. The data were processed according to descriptive statistics. Results: the greater number of tests was performed at the central laboratory (41, 2 por ciento), particularly to inpatients (42,3 percent). Out of a total of 39792 samples processed at the ultra-micro-analytic system (SUMA) laboratory, the screening for HIV represented 36,8 percent, the total prostate-specific antigen was 26,1 percent and the hepatitis B virus was 13 percent. The positivity was lower in the cases of outpatients, while at the immunology laboratory it was high, mainly in the cases of circulating immune complexes (31,2 percent), ANCA (28,1 percent) and ANA (23 percent). Conclusions: there was a high demand for lab tests. The positivity of the tests run on outpatients was reduced. The tests of the department of immunology had a higher positivit(AU)

Valoración genética e inmunológica de un paciente con dermatosis ictiosiforme y papilomavirus cutáneos / Genetic and immunological assessment of a patient with ichthyosiform dermatosis and cutaneous papillomavirus

Las ictiosis son alteraciones de la cornificación, caracterizada por hiperqueratosis y descamación, donde la piel adquiere la apariencia de escamas de pescado, son de origen genético o asociadas a otras enfermedades. La diversidad genética y bioquímica de su etiopatogenia hace imprescindible tener en cuenta las particularidades clínicas y de herencia de cada ictiosis, que facilita la decisión diagnóstica como base para el consejo genético y seguimiento del paciente enfermo. Algunas de las variantes clínicas de la ictiosis se han descrito acompañadas de infecciones recurrentes y diátesis atópica, elementos que fundamentan una inmudesregulación asociada. Se presenta un caso clínico, por el interés científico del mismo, con dermatosis ictiosiforme y papilomavirus cutáneos, que se valora en consulta de inmunología y genética. La valoración interdisciplinaria del paciente fue de gran valor para lograr una visión más integral de la fisiopatología de su enfermedad, que facilitó una mejor atención y consecuente asesoramiento genético al paciente y su familia(AU)

Ichthyosis presents as cornification alterations characterized by hyperkeratosis and desquamation, where the skin acquires the appearance of fish scales, and are of genetic origin or associated with other diseases. The genetic and biochemical diversity of its etiopathogeny makes it essential to take into account the clinical and hereditary peculiarities of each ichthyosis. This facilitates the diagnostic decision as the basis for genetic counseling and follow-up of the sick patient. Some of the clinical variants of ichthyosis have been described accompanied by recurrent infections and atopic diathesis, an element that supports an associated immunoscore. Taking into account its scientific interest this study presents a clinical case with ichthyosiform dermatosis and cutaneous papillomavirus, who is assessed at the departments of immunology and genetics. The interdisciplinary assessment of the patient was of great value to achieve a more comprehensive view of the pathophysiology of his disease, which facilitated a better care and the subsequent genetic counseling to the patient and his family(AU)

Identificación molecular de genotipos papilomavirus humanos en pacientes con cáncer de cuello uterino / Molecular identification of human papilloma virus genotypes in patients with cervical cancer

Fundamento: la principal causa para el cáncer cervico uterino es el papilomavirus humano de alto riesgo. No existen antecedentes de estudios moleculares para la tipificación de papilomavirus humano en la población de Camagüey. La reacción en cadena de la polimerasa es una técnica de Biología Molecular que se ha usado desde siempre para el diagnóstico clínico; esta permite confirmar la presencia del ADN del Papilomavirus en el ADN total extraído a partir de muestras de pacientes con cáncer de cuello uterino. Objetivo: demostrar por primera vez los genotipos papilomavirus humano de alto riesgo circulantes, que causan cáncer de cuello uterino en la población femenina de Camagüey, Cuba. Métodos: se realizó un estudio analítico prospectivo donde se estudiaron 22 pacientes femeninas de la provincia de Camagüey, que fueron atendidas en la consulta de Patología de cuello del Hospital Ginecoobstétrico. La identificación y tipificación de los genotipos papilomavirus humano se realizó mediante el procedimiento molecular polimorfismo de longitud en los fragmentos de restricción. Resultados: el 63, 6 % de los pacientes presentaron lesiones tipo exofítica, el 4, 5 % endofítica y el 31, 8 % de otros tipos. Este estudio confirmó que los genotipos papilomavirus humanos de alto riesgo circulantes en la provincia Camagüey son los genotipos 16 y 31, donde el más frecuente fue el genotipo 16. Conclusiones: la presente investigación constituye el primer reporte de un estudio molecular de papilomavirus humanos a partir de muestras de pacientes con cáncer de cuello uterino en la provincia de Camagüey, Cuba. Estos resultados, junto a los obtenidos por otros autores, tienen una contribución importante en el diseño de preparados vacunales preventivos o terapéuticos, cada vez más efectivo hacia una solución anticipada para el cáncer de cuello uterino en Cuba.

Background: it is demonstrated that the main cause of cervical cancer is high risk humanp virus. There is no precedent of molecular studies for the typing of Human Papilloma Virus in the population of Camagüey. Polymerase chain reaction is Molecular Biology technique that has been used traditionally for the clinical diagnosis and other purposes. This technique allows confirming the presence of papillomavirus´DNA in the total extracted DNA, from samples of patients with cervical cancer. Objective: to demonstrate for the first time existing high-risk human papilloma virus genotypes that cause cervical cancer in female population of Camagüey, Cuba. Methods: a prospective analytic study was conducted, in which 22 female patients of the province of Camagüey were studied. They received medical attention at Ana Betancourt Hospital. Identification and typing of the Human Papilloma Virus genotypes was carried through the molecular procedure Restriction Fragment Length Polymorphism. Results: patients who presented exophytic lesions accounted for 63, 6%, 4, 5 % had endophytic type, and 31, 8 % presented other types. This study confirmed that high-risk Human Papilloma Virus genotypes existing in the province of Camagüey are genotypes 16 and 31, and the most frequent is 16. Conclusions: this research is the first report of a molecular study of Human Papilloma Virus from samples of patients with cervical cancer in the province of Camagüey, Cuba. These results, along with the ones obtained by other authors, make an important contribution in the design of the increasingly effective therapeutic and preventive vaccine to an anticipated solution to cervical cancer in Cuba.

Identificación molecular de genotipos papilomavirus humanos en pacientes con cáncer de cuello uterino / Molecular identification of human papilloma virus genotypes in patients with cervical cancer

Fundamento: la principal causa para el cáncer cervico uterino es el papilomavirus humano de alto riesgo. No existen antecedentes de estudios moleculares para la tipificación de papilomavirus humano en la población de Camagüey. La reacción en cadena de la polimerasa es una técnica de Biología Molecular que se ha usado desde siempre para el diagnóstico clínico; esta permite confirmar la presencia del ADN del Papilomavirus en el ADN total extraído a partir de muestras de pacientes con cáncer de cuello uterino.Objetivo: demostrar por primera vez los genotipos papilomavirus humano de alto riesgo circulantes, que causan cáncer de cuello uterino en la población femenina de Camagüey, Cuba.Métodos: se realizó un estudio analítico prospectivo donde se estudiaron 22 pacientes femeninas de la provincia de Camagüey, que fueron atendidas en la consulta de Patología de cuello del Hospital Ginecoobstétrico. La identificación y tipificación de los genotipos papilomavirus humano se realizó mediante el procedimiento molecular polimorfismo de longitud en los fragmentos de restricción.Resultados: el 63, 6 porciento de los pacientes presentaron lesiones tipo exofítica, el 4, 5 porciento endofítica y el 31, 8 porciento de otros tipos. Este estudio confirmó que los genotipos papilomavirus humanos de alto riesgo circulantes en la provincia Camagüey son los genotipos 16 y 31, donde el más frecuente fue el genotipo 16.Conclusiones: la presente investigación constituye el primer reporte de un estudio molecular de papilomavirus humanos a partir de muestras de pacientes con cáncer de cuello uterino en la provincia de Camagüey, Cuba. Estos resultados, junto a los obtenidos por otros autores, tienen una contribución importante en el diseño de preparados vacunales preventivos o terapéuticos, cada vez más efectivo hacia una solución anticipada para el cáncer de cuello uterino en Cuba.(AU)

Background: it is demonstrated that the main cause of cervical cancer is high risk humanp virus. There is no precedent of molecular studies for the typing of Human Papilloma Virus in the population of Camagüey. Polymerase chain reaction is Molecular Biology technique that has been used traditionally for the clinical diagnosis and other purposes. This technique allows confirming the presence of papillomavirus´DNA in the total extracted DNA, from samples of patients with cervical cancer.Objective: to demonstrate for the first time existing high-risk human papilloma virus genotypes that cause cervical cancer in female population of Camagüey, Cuba.Methods: a prospective analytic study was conducted, in which 22 female patients of the province of Camagüey were studied. They received medical attention at Ana Betancourt Hospital. Identification and typing of the Human Papilloma Virus genotypes was carried through the molecular procedure Restriction Fragment Length Polymorphism.Results: patients who presented exophytic lesions accounted for 63, 6percent, 4, 5 percent had endophytic type, and 31, 8 percent presented other types. This study confirmed that high-risk Human Papilloma Virus genotypes existing in the province of Camagüey are genotypes 16 and 31, and the most frequent is 16.Conclusions: this research is the first report of a molecular study of Human Papilloma Virus from samples of patients with cervical cancer in the province of Camagüey, Cuba. These results, along with the ones obtained by other authors, make an important contribution in the design of the increasingly effective therapeutic and preventive vaccine to an anticipated solution to cervical cancer in Cuba.(AU)

Inmunogenética de las espondiloartropatías / Immunogenetics of spondylo-arthropathies

Las espondiloartropatías son la segunda causa más frecuente de artritis inflamatorias autoinmunes en los humanos. Los antígenos HLA-B27, codificados por genes ubicados en el brazo corto del cromosoma 6, han sido señalados como un marcador genético diagnóstico de estas enfermedades, por su alta asociación; sin embargo, su papel en la inmunopatogenia ha sido polémico y contradictorio, ya que siendo elementos claves en la defensa frente a agentes externos, o extraños al organismo, se involucran en una respuesta autoinmune. Se realizó una revisión bibliográfica con el objetivo de profundizar en la inmunogenética de las espondiloartropatías, haciendo énfasis en el papel del HLA-B27. Se presentan las hipótesis más documentadas de la participación de este antígeno en la patogenia de las espondiloartropatías, teniendo en cuenta enfoques que van desde la genética hasta la bioquímica; así como, propiedades dinámicas estructurales del complejo HLA-B27-péptido. La revisión permite un mejor entendimiento de la etiopatogenia de las espondiloartropatías, sus manifestaciones clínicas y, de manera especial, la apertura de perspectivas terapéuticas (AU)

Spondylo-arthropathies are the second most frequent cause of autoimmune inflammatory arthritis in human beings. HLA-B27 antigens, coded by genes located in the shorter arm of chromosome 6, have been pointed out as a genetic marker for the diagnosis of these diseases because of its high as sociation. However, its role within immuno-pathogenesis has been controversial and contradictory; based on the fact of being key elements in the defense against bodies foreign to the organism, they are involved in an autoimmune response. This literature review has been carried out with the objective to deepen into the immunogenetics of spondylo-arthropathies, making emphasis on the role of HLA-B27. The most documented hypotheses on the presence of HLA-B27 in the pathogenesis of spondylo-arthropathies were presented, taking into account approaches ranging from genetics to biochemistry, as well as the structural dynamic properties of the HLA B27-peptide complex. This review allows a better understanding of the etio-pathogenesis of the spondyloarthropathies, its clinical manifestations and specially, the opening of therapeutic perspectives (AU)