Síndrome de insensibilidad completa a los andrógenos: reporte de un caso, ilustración del manejo quirúrgico

ResumenEl término “desorden en la diferenciación sexual” (DDS) representa un grupo de anormalidades en el desarrollo del tracto genitourinario, en el cual ocurre un desarrollo atípico en uno o más niveles: cromosómico, gonadal o anatómico. Los genéticamente varones 46XY pueden presentarse con genitales externos fenotípicamente femeninos o ambiguos. El síndrome de insensibilidad a los andrógenos se podría considerar una enfermedad causada por la resistencia a la acción androgénica, causada por la mutación Xq11-12, que afecta los receptores androgénicos; la presentación clínica dependerá del grado de insensibilidad, leve (masculino infértil), moderada o completa como en nuestro caso. Requiere seguimiento por psicólogo y psiquíatra para familiares y paciente, para un desarrollo psicosexual adecuado, antes y después del tratamiento quirúrgico definitivo.El objetivo del presente artículo es realizar una revisión sistemática de los artículos publicados en la base de datos de Medline, para identificar la epidemiología e incidencia del síndrome de insensibilidad completa a los andrógenos, así como reconocer su abordaje, tratamiento y seguimiento de estos casos.Se presenta paciente de 23 años de edad, sin antecedentes patológicos de importancia, la cual inicia su estudio a los 17 años de edad por el Servicio de Ginecología, por presentar amenorrea y falta de desarrollo en caracteres sexuales secundarios, tiene estudios de imagen sin evidenciar estructuras Müllerianas; se realiza laparoscopía diagnóstica en 2 ocasiones sin poder identificar órganos sexuales femeninos o vestigios de testículos; estudio hormonal con niveles de estrógenos y testosterona evidentemente bajos con hormona folículo estimulante (FSH), hormona luteinizante (LH) y hormona liberadora de gonadotropinas dentro de parámetros normales; el cariotipo reporta 46XY. En ese momento se ofrece apoyo psiquiátrico, se decide continuar con educación femenina, por lo que se resuelve colocación de prótesis mamaria. Finalmente, se nos interconsulta para la realización de vaginoplastía con uso de segmento intestinal como canal vaginal.AbstractThe term “disorders of sexual differentiation” (DSD) encompasses a group of abnormalities in the development of the genitourinary tract. Atypical development occurs at one or more chromosomal, gonadal, or anatomic levels. 46 XY genetic males may present with external genitals that are phenotypically female or ambiguous. Androgen insensitivity syndrome could be considered a disease caused by resistance to androgenic action due to the Xq11-12 mutation that affects the androgenic receptors. Clinical presentation depends on the degree of insensitivity: mild (infertile male), partial, or complete, as with our patient. Psychologic and psychiatric follow-up is required for both the patient and family members so there can be adequate psychosexual development before and after definitive surgical treatment.The aim of this article was to conduct a systematic review of published reports in the MEDLINE database to identify the epidemiology and incidence of complete androgen insensitivity syndrome and to examine the approach, treatment, and follow-up of these cases.We present herein a 23-year-old patient, with an unremarkable pathologic history, who began to be studied by the Gynecology Service at 17 years of age due to amenorrhea and lack of secondary sexual development. Imaging studies failed to show Müllerian structures. Diagnostic laparoscopy was performed on 2 occasions in which female sexual organs or vestiges of testes were unable to be identified. Hormonal study revealed obviously low levels of estrogens and testosterone, and follicle-stimulating hormone (FSH), luteinizing hormone (LH), and gonadotropinreleasing hormone were within normal parameters; 46XY karyotype was reported. Psychiatric support was then offered. It was decided that the patient would continue to be raised and treated as a female and therefore she was given breast implants. Our service was subsequently consulted for performing vaginoplasty using an intestinal segment as the vaginal canal

Síndrome de insensibilidad completa a los andrógenos: reporte de un caso, ilustración del manejo quirúrgico

ResumenEl término “desorden en la diferenciación sexual” (DDS) representa un grupo de anormalidades en el desarrollo del tracto genitourinario, en el cual ocurre un desarrollo atípico en uno o más niveles: cromosómico, gonadal o anatómico. Los genéticamente varones 46XY pueden presentarse con genitales externos fenotípicamente femeninos o ambiguos. El síndrome de insensibilidad a los andrógenos se podría considerar una enfermedad causada por la resistencia a la acción androgénica, causada por la mutación Xq11-12, que afecta los receptores androgénicos; la presentación clínica dependerá del grado de insensibilidad, leve (masculino infértil), moderada o completa como en nuestro caso. Requiere seguimiento por psicólogo y psiquíatra para familiares y paciente, para un desarrollo psicosexual adecuado, antes y después del tratamiento quirúrgico definitivo.El objetivo del presente artículo es realizar una revisión sistemática de los artículos publicados en la base de datos de Medline, para identificar la epidemiología e incidencia del síndrome de insensibilidad completa a los andrógenos, así como reconocer su abordaje, tratamiento y seguimiento de estos casos.Se presenta paciente de 23 años de edad, sin antecedentes patológicos de importancia, la cual inicia su estudio a los 17 años de edad por el Servicio de Ginecología, por presentar amenorrea y falta de desarrollo en caracteres sexuales secundarios, tiene estudios de imagen sin evidenciar estructuras Müllerianas; se realiza laparoscopía diagnóstica en 2 ocasiones sin poder identificar órganos sexuales femeninos o vestigios de testículos; estudio hormonal con niveles de estrógenos y testosterona evidentemente bajos con hormona folículo estimulante (FSH), hormona luteinizante (LH) y hormona liberadora de gonadotropinas dentro de parámetros normales; el cariotipo reporta 46XY. En ese momento se ofrece apoyo psiquiátrico, se decide continuar con educación femenina, por lo que se resuelve colocación de prótesis mamaria. Finalmente, se nos interconsulta para la realización de vaginoplastía con uso de segmento intestinal como canal vaginal.AbstractThe term “disorders of sexual differentiation” (DSD) encompasses a group of abnormalities in the development of the genitourinary tract. Atypical development occurs at one or more chromosomal, gonadal, or anatomic levels. 46 XY genetic males may present with external genitals that are phenotypically female or ambiguous. Androgen insensitivity syndrome could be considered a disease caused by resistance to androgenic action due to the Xq11-12 mutation that affects the androgenic receptors. Clinical presentation depends on the degree of insensitivity: mild (infertile male), partial, or complete, as with our patient. Psychologic and psychiatric follow-up is required for both the patient and family members so there can be adequate psychosexual development before and after definitive surgical treatment.The aim of this article was to conduct a systematic review of published reports in the MEDLINE database to identify the epidemiology and incidence of complete androgen insensitivity syndrome and to examine the approach, treatment, and follow-up of these cases.We present herein a 23-year-old patient, with an unremarkable pathologic history, who began to be studied by the Gynecology Service at 17 years of age due to amenorrhea and lack of secondary sexual development. Imaging studies failed to show Müllerian structures. Diagnostic laparoscopy was performed on 2 occasions in which female sexual organs or vestiges of testes were unable to be identified. Hormonal study revealed obviously low levels of estrogens and testosterone, and follicle-stimulating hormone (FSH), luteinizing hormone (LH), and gonadotropinreleasing hormone were within normal parameters; 46XY karyotype was reported. Psychiatric support was then offered. It was decided that the patient would continue to be raised and treated as a female and therefore she was given breast implants. Our service was subsequently consulted for performing vaginoplasty using an intestinal segment as the vaginal canal

Identidad, coexistencia y familia

La búsqueda afanosa de la identidad cultural y personal se acentúa en un mundo globalizado. La tendencia a buscar formas generales en la organización de la convivencia parece amenazar las identidades singulares, propiciando el recelo hacia toda apertura a la universalidad. La coexistencia, como radical antropológico, se pierde de vista en la relación interpersonal. La familia parece ser el mejor ámbito educativo para aprender experiencialmente que el desarrollo de la propia identidad no es opuesto sino complementario a la apertura universal que reclama la globalización

Multi-scale influence of vapor pressure deficit on fire ignition and spread in boreal forest ecosystems

Climate-driven changes in the fire regime within boreal forest ecosystems are likely to have important effects on carbon cycling and species composition. In the context of improving fire management options and developing more realistic scenarios of future change, it is important to understand how meteorology regulates different aspects of fire dynamics, including ignition, daily fire spread, and cumulative annual burned area. Here we combined Moderate-Resolution Imaging Spectroradiometer (MODIS) active fires (MCD14ML), MODIS imagery (MOD13A1) and ancillary historic fire perimeter information to produce a data set of daily fire spread maps for Alaska during 2002–2011. This approach provided a spatial and temporally continuous representation of fire progression and a precise identification of ignition and extinction locations and dates for each wildfire. The fire-spread maps were analyzed with daily vapor pressure deficit (VPD) observations from the North American Regional Reanalysis (NARR) and lightning strikes from the Alaska Lightning Detection Network (ALDN). We found a significant relationship between daily VPD and likelihood that a lightning strike would develop into a fire ignition. In the first week after ignition, above average VPD increased the probability that fires would grow to large or very large sizes. Strong relationships also were identified between VPD and burned area at several levels of temporal and spatial aggregation. As a consequence of regional coherence in meteorology, ignition, daily fire spread, and fire extinction events were often synchronized across different fires in interior Alaska. At a regional scale, the sum of positive VPD anomalies during the fire season was positively correlated with annual burned area during the NARR era (1979–2011; R2 = 0.45). Some of the largest fires we mapped had slow initial growth, indicating opportunities may exist for suppression efforts to adaptively manage these forests for climate change. The results of our spatiotemporal analysis provide new information about temporal and spatial dynamics of wildfires and have implications for modeling the terrestrial carbon cycle

UABICI Walking Intervention Related To BMI, BP And Emotional Attitude

INTRODUCTION: Physical activity is defined as bodily activity that results in energy expenditure. Exercise refers to physical activity that is structured to meet specific fitness gains. Maintaining a physically active lifestyle has been associated with health outcomes that include benefits to cognitive function. Exercise can increase levels of brain-derived neurotrophic factor (BDNF) and other growth factors, stimulate neurogenesis, and improve learning and mental performance. The American College of Sports Medicine recommends that most adults engage in a regular exercise regime in order to maintain health and wellbeing. PURPOSE: Apply at UABC Valle Dorado developed Program every last Sunday of each month that consists in two activities: One was walking 5km /at 5 METs and the other was cycling 10 km with low effort. Every participant did a route by walking or cycling. A monthly intervention with promotion, prevention and measurement of BMI, BP. That activity was done 75 times. METHODS: Participants were 150 students and family members over 18 years old. The design was, observational and correlational. Medicine school students were checking before the physical activity BP, BMI, warm exercises to experience equilibrium, for about 15 minutes with jumping jacks, pushups, before walking. 5METS/ 5km Psychology students applied violent survey. Since 1st UABICI until the last 75th August 2017. RESULTS: Mean age was 22 years old. Participants on baseline mean BMI was 27.5 (5.1) kg/m2 with 38.1 normal, 29.9 % overweight, and 30.0% obese. At the end of the intervention, the participants reduced BMI, 26.4 with 40 % normal, 32% overweight and 28% obese. BP was normal. CONCLUSION: Participants were 98 percent students and only 2 percentage of teachers, that achieved lower obesity parameters compared with the initial measure. Some students started to form groups of cycling and walking, at the time they noticed the results

High genetic connectivity in a gastropod with long-lived planktonic larvae

Genetic connectivity plays a crucial role in shaping the geographic structure of species. Our aim in this study was to explore the pattern of genetic connectivity in Bursa scrobilator, an iconic marine caenogastropod with long-lived pelagic larvae. Our study was based on the analysis of DNA sequence data for the 658-bp barcoding fragment of the mitochondrial cytochrome c oxidase subunit I (COI) gene. This is the largest DNA sequence dataset assembled to date for B. scrobilator. These data confirm that the two recently described subspecies B. scrobilator scrobilator (Linnaeus, 1758), from the Mediterranean and Macaronesia, and B. s. coriacea (Reeve, 1844), from West Africa, constitute two evolutionarily significant units (ESUs). We found that for the nominal subspecies, the variation in morphology (shell, radula and gross anatomy) and DNA sequences was not geographically structured, and this agrees with what we would expect in a species with high connectivity at the larval stage. The divergence between the two subspecies cannot be easily explained by isolation by distance, and we would argue that one or more extrinsic factors may have played a role in isolating the two ESUs and maintaining that isolation

Discovery of a tyrosine-rich sporocyst wall protein in Eimeria tenella.

BACKGROUND: Eimeria is an important genus of apicomplexan parasites. A defining feature of these parasites is the oocyst, which is transmitted into the environment via the faeces of definitive hosts. The oocyst wall contains cross-linked, tyrosine-rich proteins and protects eight infectious sporozoites, housed in pairs within a second walled structure, the sporocyst. The biochemical basis for sporocyst wall formation is not known. FINDINGS: Here, we report the discovery of a novel tyrosine-rich protein, EtSWP1, in Eimeria tenella. Like the tyrosine-rich proteins of the oocyst wall, EtSWP1 is an intrinsically disordered protein with the tyrosine residues concentrated in a specific region of the protein, located immediately following the region of intrinsic disorder. We engineered E. tenella to express mCherry-tagged EtSWP1 and showed that the tagged protein localises specifically to sporocyst walls, indicating that the biochemistry of sporocyst wall assembly is analagous to that of oocyst walls. CONCLUSIONS: Tyrosine-rich proteins are known to be key components of the oocyst wall and we now demonstrate, using gene and protein analyses combined with genetic manipulation, that a novel tyrosine-rich protein is specific for the sporocyst wall. This finding is important because it shows that the biochemistry of these two distinct walls is similar and, hence, brings targeted disruption of sporulation and, therefore, potential neutralisation of oocysts in the environment, a step closer

Facilitation of non-indigenous ascidian by marine eco-engineering interventions at an urban site

Marine artificial structures often support lower native species diversity and more non-indigenous species (NIS), but adding complex habitat and using bioreceptive materials have the potential to mitigate these impacts. Here, the interacting effects of structural complexity (flat, complex with pits) and concrete mixture (standard, or with oyster shell or vermiculite aggregate) on recruitment were assessed at two intertidal levels at an urban site. Complex tiles had less green algal cover, oyster shell mixtures had less brown (Ralfsia sp.) algal cover. At a low tidal elevation, the non-indigenous ascidian Styela plicata dominated complex tiles. Additionally, mixtures with oyster shell supported higher total cover of sessile species, and a higher cover of S. plicata. There were no effects of complexity or mixture on biofilm communities and native and NIS richness. Overall, these results suggest that habitat complexity and some bioreceptive materials may facilitate colonisation by a dominant invertebrate invader on artificial structures

Desarrollo de materiales multifuncionales magnetoeléctricos para nanodispositivos de nueva generación

En la presente investigación se realizó una serie de procesos experimentales enfocados en la obtención de un polímero biocompatible, flexible y sólido con propiedades piezoeléctricas, utilizando materiales base como los polímeros PDMS y ECOFLEX, y la sal de Rochelle que proporcionará la propiedad piezoeléctrica y de biocompatibilidad. Primeramente, se experimentó con la síntesis química de la sal de Rochelle, para después realizar procesos de mezclado con los polímeros. De esta forma, se concluyó que el polímero ECOFLEX fue el óptimo para la obtención del polímero piezoeléctrico con las características deseadas. Se desarrollaron tres metodologías para la obtención del polímero piezoeléctrico. El proceso en bruto fue el que presento respuestas de voltajes más altos de hasta 1V en concentraciones saturadas y únicamente con estímulos pulsados. Para el proceso en líquido se presentó una respuesta piezoeléctrica con un menor voltaje por medio de estímulos pulsados, no obstante, fue el único que presentó respuesta por medio de estímulos de flexión. Finalmente, para el proceso en raspado se presentó una buena respuesta piezoeléctrica por medio de estímulos pulsados, pero a concentraciones muy bajas. Se considera que se debe continuar con la investigación de los polímeros piezoeléctricos obtenidos en ámbitos de electrónica para realizar pruebas de almacenamiento y vida útil, logrando dar un mayor énfasis en la optimización del polímero piezoeléctrico.ITESO, A.C