Bioclimatic thermal stress indices and their relationships with andrological characteristics in hair rams.

This study evaluated relationships among reproductive parameters and the bioclimatic indices: temperature and humidity index (THI), equivalent temperature index (ETI), black globe temperature and humidity index (BGTHI), and thermal comfort index (TCI), during the first 45 days of spermatogenesis (SP-45) and during the 15 days of sperm transit through the epididymis (STP-15) that preceded the reproductive assessments (ReA). Such information is useful in determining the optimal breeding season in Northeast Brazil. Santa Inês rams (n = 25) underwent two ReA in three periods of the year (D-P = dry; R-P = rainy and RD-P = rainy/dry transition), and the bioclimatic indices were calculated at the corresponding SP-45 and STP-15 timepoints prior to each ReA. Sperm kinetic parameters in D-P were depressed compared to R-P and RD-P (P < 0.05). The index values had an antagonistic relationship with most parameters and regression analysis demonstrated that the BGTHI and the TCI had a negative association with the progressive motility, curvilinear, straight line, and average path velocities, and a positive association with slow sperm in the ejaculate in SP-45 and STP-15 phases (P < 0.01). Semen quality kinetics is affected throughout the year by the environment and it is apparent that it is impaired in D-P and better in R-P and RD-P seasons. The BGTHI and TCI measured in the sperm production phase classified the environment most coherently and presented better association with the behavior of sperm kinetics.

Association between different soy lecithin-based extenders and freezing rates in ram semen cryopreservation.

The aim of the study was to evaluate the effect of the association between glycine-milk (GM) based extenders made with different concentrations of soy lecithin (SL) and freezing rates (FR) on semen quality after thawing. Pooled semen from rams (n = 12) were diluted in GM extenders with 20% egg yolk (EY-20%) or with different concentrations of SL: 0.5% (SL-0.5%), 1.0% (SL-1.0%), and 2.0% (SL-2.0%). The diluted semen (150 ×106 spermatozoa/0.25 mL) was frozen at three FR of - 10, - 20, and - 60 °C/min, and subsequently thawed and analyzed. Results revealed that EY-20% and SL-2.0% had better kinetic parameters, and showed higher proportions of viable, non-apoptotic, plasma-membrane-intact spermatozoa (A-/PI-) and non-capacitated spermatozoa (F), and had lower acrosome-reacted spermatozoa (AR) in the EY-20% and satisfactory values for SL-2.0% compared to SL-0.5% and SL-1.0% (P < 0.05). The FR at - 20 and - 60 °C/min maintained higher A-/PI- and viable spermatozoa compared to - 10 °C/min. The combination EY-20% and - 60 °C/min showed the highest A-/PI- and F (P < 0.05) and the lowest AR, and it did not differ from the combinations EY-20% at - 20 °C/min and SL-2.0% at - 20 °C/min (P > 0.05). In conclusion, the combination EY-20% and - 60 °C/min, showed the best cryoprotective effects on ram spermatozoa. Changes in spermatozoa after thawing were related to the use of the type of extender, the amounts of the same compound in the extender, and the freezing rates to which they were subjected.

Evaluation of air pollution tolerance index and anticipated performance index of six plant species, in an urban tropical valley: Medellin, Colombia.

High atmospheric pollution levels in urban areas have become a global problem that threatens both human health and urban ecosystems. Trees that grow near areas with vehicular and industrial emissions can be highly affected, since they constitute the main barrier for emitted pollutants, with trees being either tolerant or sensitive to them. Different methodologies worldwide have been implemented to evaluate the tolerance and sensitivity of tree species to atmospheric pollutants. In this research, the air pollution tolerance index (APTI) and the anticipated performance index (API) are evaluated in order to determine both the degree of tolerance or sensitivity of trees to pollutants in the air and their performance in urban areas. To this end, six tree species found in four biomonitoring zones in the city of Medellín, Colombia, were selected: Mangifera indica, Tabebuia chrysantha-rosea, Erythrina fusca, Jacaranda mimosifolia, Fraxinus uhdei, and Spathodea campanulata. A total of 54 individual trees were evaluated by means of the APTI and API, and it was determined that the species with the highest tolerance (APTI≥16) and the best performance (81

Spatial distribution of lichen communities and air pollution mapping in a tropical city: Medellín, Colombia / Distribución espacial de las comunidades de líquenes y mapeo de la contaminación del aire en una ciudad tropical: Medellín, Colombia

Abstract Introduction: Enough scientific evidence is available on the harmful effects of air pollution on the health of human beings, fauna, flora, and ecosystems in general. The mechanical and electronical monitoring networks are the first option for the air quality diagnosis, but they do not allow a direct and precise assessment of the impacts in living organisms that may result from the exposure to air pollutants. Objective: To evaluate the changes in the composition of corticulous lichen communities as a response to various stress factors in areas with different levels of air quality to diagnose the state of pollution or intervention in an area with a more complete option. Methods: Air quality contrasts and changes in richness and coverage of corticulous lichens in response to different stress factors, such as land use and distance to roads, in three different biomonitoring areas, were evaluate using GIS, and the data are presented in an easy-to-understand grey scale coded isoline map. Results: Indicators such as lichen coverage (R= -0.4) and richness (R= -0.7) are inverse correlated with PM2.5 concentrations in each area. A total of 110 lichen species were identified, being Phaeophyscia chloantha (Ach.) Moberg and Physcia poncinsii Hue the most frequent species (present in 38 and 33 % of the 86 sampled phorophytes, respectively). The intra-area relationships of lichen richness exhibit significant relationships with regards to the land use and distance to roads (with correlations coefficients greater than 0.5) and the Simpson index was higher than 0.9, in places with better conditions in terms of air quality and microenvironments, likewise the resistance factors calculated suggest that the most sensitive species can be found in environments with a lesser degree of disturbance. Conclusion: These evaluations represent more criteria elements for the diagnosis of the environmental health in the biomonitoring areas.

Resumen Introducción: Existe suficiente evidencia científica de los efectos nocivos de la contaminación atmosférica sobre la salud de los seres humanos, fauna, flora y ecosistemas en general. La primera opción para el diagnóstico de la calidad del aire son las redes de monitoreo mecánicas o electrónicas, pero estas no permiten evaluar de forma directa y precisa el impacto en los organismos vivos como resultado de la exposición a contaminantes del aire. Objetivo: Evaluar los cambios en la composición de las comunidades de líquenes cortícolas como resultado a la exposición de factores de estrés ambiental en áreas con diferentes niveles de calidad del aire para diagnosticar el estado de contaminación o intervención en una zona de una manera más completa. Métodos: Se determinaron los contrastes y cambios en la calidad del aire, la riqueza y cobertura de líquenes cortícolas en respuesta a diferentes factores de estrés, como usos del suelo y distancia a carreteras, en tres diferentes áreas de biomonitoreo, las cuales fueron evaluadas usando GIS. Los datos se presentan en un mapa de isolíneas con códigos en escala de grises fácil de entender. Resultados: Indicadores como cobertura (R= -0.4) y riqueza (R= -0.7) de líquenes están inversamente correlacionados con las concentraciones de PM2.5 en cada área. Se identificaron un total de 110 especies de líquenes, siendo Phaeophyscia chloantha (Ach.) Moberg y Physcia poncinsii Hue las especies más frecuentes (presentes en 38 y 33 % de los 86 forófitos muestreados, respectivamente). Las relaciones intra-área de riqueza de líquenes exhiben relaciones significativas con respecto al uso del suelo y distancia a carreteras (con coeficientes de correlación mayores a 0.5) y el índice de Simpson fue mayor a 0.9, en lugares con mejores condiciones en términos de calidad del aire y microambientes. Asimismo, los factores de resistencia calculados sugieren que las especies más sensibles se pueden encontrar en ambientes con menor grado de perturbación. Conclusión: Estas evaluaciones representan más elementos de criterio para el diagnóstico de la salud ambiental en las áreas de biomonitoreo.

Genetic analysis of activity, brain and behavioral associations in extended families with heavy genetic loading for bipolar disorder.

BACKGROUND: Disturbed sleep and activity are prominent features of bipolar disorder type I (BP-I). However, the relationship of sleep and activity characteristics to brain structure and behavior in euthymic BP-I patients and their non-BP-I relatives is unknown. Additionally, underlying genetic relationships between these traits have not been investigated. METHODS: Relationships between sleep and activity phenotypes, assessed using actigraphy, with structural neuroimaging (brain) and cognitive and temperament (behavior) phenotypes were investigated in 558 euthymic individuals from multi-generational pedigrees including at least one member with BP-I. Genetic correlations between actigraphy-brain and actigraphy-behavior associations were assessed, and bivariate linkage analysis was conducted for trait pairs with evidence of shared genetic influences. RESULTS: More physical activity and longer awake time were significantly associated with increased brain volumes and cortical thickness, better performance on neurocognitive measures of long-term memory and executive function, and less extreme scores on measures of temperament (impulsivity, cyclothymia). These associations did not differ between BP-I patients and their non-BP-I relatives. For nine activity-brain or activity-behavior pairs there was evidence for shared genetic influence (genetic correlations); of these pairs, a suggestive bivariate quantitative trait locus on chromosome 7 for wake duration and verbal working memory was identified. CONCLUSIONS: Our findings indicate that increased physical activity and more adequate sleep are associated with increased brain size, better cognitive function and more stable temperament in BP-I patients and their non-BP-I relatives. Additionally, we found evidence for pleiotropy of several actigraphy-behavior and actigraphy-brain phenotypes, suggesting a shared genetic basis for these traits.

Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder.

Bipolar disorder is a highly heritable illness, associated with alterations of brain structure. As such, identification of genes influencing inter-individual differences in brain morphology may help elucidate the underlying pathophysiology of bipolar disorder (BP). To identify quantitative trait loci (QTL) that contribute to phenotypic variance of brain structure, structural neuroimages were acquired from family members (n = 527) of extended pedigrees heavily loaded for bipolar disorder ascertained from genetically isolated populations in Latin America. Genome-wide linkage and association analysis were conducted on the subset of heritable brain traits that showed significant evidence of association with bipolar disorder (n = 24) to map QTL influencing regional measures of brain volume and cortical thickness. Two chromosomal regions showed significant evidence of linkage; a QTL on chromosome 1p influencing corpus callosum volume and a region on chromosome 7p linked to cortical volume. Association analysis within the two QTLs identified three SNPs correlated with the brain measures.

Escoliosis idiopática del adolescente de bajo grado / Low grade adolescent idioaphic scoliosis

La escoliosis idiopática del adolescente (eia) es la forma de escoliosis más frecuente, afecta al 1 a 3% de los adolescentes. Su etiología aún no está totalmente definida siendo la causa genética la más probable. El objetivo principal del tratamiento es evitar la progresión de la curva y por ende prescindir del tratamiento quirúrgico. Tratamiento en curvas no severas dependerá de la madurez esquelética del paciente y de la magnitud de la curva, siendo la observación en curvas leves y el uso de corsé en las moderadas los tratamientos más aceptados.

Adolescent idiopathic scoliosis (ais) is the most frequent form of scoliosis, affecting 1 to 3% of adolescent. Its etiology is not yet fully defined, being the genetic factor the most important. The main objective of the treatment is to avoid the progression of the curve and therefore dispense with surgical treatment. Treatment in non-severe curves will depend of the skeletal maturity of the patient and the magnitude of the curve, being the observation in slight curves and the use of corset in the moderate ones the most accepted treatments.

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.

Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (P = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (P = 0.047) and rare CNVs (P = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants.

A case of left atrial compression secondary to angioedema.

Angioedema due to angiotensin-converting enzyme (ACE) inhibitors is an uncommon, but deadly adverse reaction with an overall incidence of 0.1%-0.2%. Rapid accumulation of interstitial fluid and vasodilation classically involves the mucus membranes of the mouth and face but has the ability to affect other areas. We describe a case of angioedema secondary to ACE inhibitor that affected the esophagus causing left atrial compression and hemodynamic compromise.

Modulation of exercise-induced muscular damage and hyperalgesia by different 630 nm doses of light-emitting diode therapy (LEDT) in rats.

We compared the acute effects of different doses of 630 nm light-emitting diode therapy (LEDT) on skeletal muscle inflammation and hyperalgesia in rats submitted to exercise-induced muscle damage (EIMD). Wistar rats were divided into five experimental groups (n = 5-8/group): sedentary control (CON); exercise + passive recovery (PR); and exercise + LEDT (1.2 J/cm2, 1.8 J; 4.2 J/cm2, 6.3 J; 10.0 J/cm2, 15 J). After 100 min of swimming, the rats in the LEDT groups were exposed to phototherapy on the triceps surae muscle. For mechanical hyperalgesia evaluation, paw withdrawal threshold was assessed before and 24 h after swimming. Immediately after hyperalgesia tests, blood samples were collected to analyze creatine kinase (CK) activity and the soleus muscle was removed for histological and tumor necrosis factor (TNF)-α immunohistological analyses. In all LEDT groups, plasma CK activity was reduced to levels similar to those measured in the CON group. Paw withdrawal threshold decreased in the PR group (- 11.9 ± 1.9 g) when compared to the CON group (2.2 ± 1.5 g; p < 0.01) and it was attenuated in the group LEDT 4.2 J/cm2 (- 3.3 ± 2.4 g, p < 0.05). Less leukocyte infiltration and edema and fewer necrotic areas were found in histological sections of soleus muscle in LEDT (4.2 J/cm2) and LEDT (10.0 J/cm2) groups compared to the PR group. Also, LEDT (4.2 J/cm2) and LEDT (10.0 J/cm2) groups showed less immunostaining for TNF-α in macrophages or areas with necrosis of muscle fibers compared to the PR group. LEDT (4.2 J/cm2, 6.3 J)-reduced muscle inflammation and nociception in animals submitted to EIMD.

Efficacy and safety of treatment of hyposecretory dry eye with platelet-rich plasma.

OBJECTIVE: To evaluate and compare the symptomatology and clinical findings in hyposecretory dry eye of the treatment with platelet-rich plasma (PRP) and artificial tears of sodium hyaluronate (SH). METHODS: Blind single-centre prospective comparative randomized study including 83 patients with hyposecretory dry eye and mean age of 64.0 years. Two groups were differentiated depending on the treatment applied: 44 patients treated with PRP (PRP group), and 39 patients treated with artificial tears of SH (SH group). Changes in Schimer test, tear osmolarity, corneal and conjunctival staining, tear film break-up time (TF-BUT), conjunctival hyperaemia, dry eye-related symptoms with the Ocular Surface Disease Index questionnaire, and caliciform cell density were evaluated during 30 days of treatment. RESULTS: Significantly larger reduction in symptomatology (p < 0.001), visual improvement (p < 0.001), reduction in hyperaemia (p < 0.001), and corneal and conjunctival staining (p < 0.001), increment of Schirmer test outcome (p ≤ 0.005), and reduction of osmolarity were found in the PRP group in both eyes compared to SH group at 15 and 30 days of treatment. Likewise, a significantly higher increment of caliciform cell density (p < 0.001) was found in the PRP group. Strong and statistically significant correlations were found in the PRP group of the change achieved in visual acuity, hyperaemia, osmolarity, and conjunctival and corneal staining with the baseline values of these variables (p < 0.001). CONCLUSION: PRP treatment in hyposecretory dry eye induces a more significant positive effect over symptomatology and different dry eye signs than SH, especially in moderate and severe cases.

Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance.

Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.

Quiste aracnoidal cervical anterior en edad pediátrica / Anterior cervical arachnoid cyst in pediatric age

Los quistes aracnoidales espinales son lesiones poco comunes en la población pediátrica. La mayor parte de ellos, se ubican en los segmentos dorsales y la posición anterior respecto a la médula es rara en todos los casos. Si bien su patogenia no está aclarada, se han asociado a defectos del tubo neural y traumas previos. Clínicamente, pueden presentarse con síndrome medular que en ocasiones pueden empeorar con cambios posturales. El tratamiento, puede ser conservador o quirúrgico, el que está indicado en presencia de síntomas neurológicos secundarios a compresión medular, siendo el abordaje posterior el más frecuentemente utilizado. El propósito de la cirugía es la resección total o en su defecto, la fenestración del quiste para comunicarlo al espacio subaracnoídeo. Una potencial complicación de la vía posterior, es la herniación medular durante la durotomía, secundaria al efecto compresivo del quiste, la cual podría aumentar la morbilidad neurológica en el período postoperatorio. Se presentan 2 casos consecutivos en edad pediátrica con quistes intradurales espinales anteriores, el primero en la región cervico-dorsal cuya cirugía se vio dificultada por la presencia de herniación medular transdural y un segundo caso con un quiste exclusivamente cervical, en que mediante una punción lateral del quiste guiada por ecografía previo a la durotomía, se logró resecar la lesión sin esta complicación.

Spinal arachnoid cysts are rare lesions in pediatric population. Most of them are located posteriorly in dorsal segments ananterior position is rare. Although its pathogenesis has not been elucidated, they have been associated with neural tube defects and the presence of previous spinal traumas. Clinically, they present with a spinal cord syndrome which can sometimes worsen with postural changes. Treatment may be conservative or surgical, the latter indicated by the presence of neurological symptoms secondary to spinal cord compression, with the posterior approach being the most frequently used. The purpose of surgery is total or partial resection, or fenestration of the cyst to subarachnoid space. A potential intra-surgical complication of posterior approach in anterior cyst is spinal cord herniation during durotomy, secondary to the compressive effect of the cyst, which could increase neurological morbidity in the postoperative period (1 case with mortality is described in the literature). We present 2 consecutive cases in pediatric patients with previous spinal intradural cysts. The first in the cervico-dorsal region whose surgery was hampered by the presence of medullary transdural herniation and second case with an exclusively cervical cyst that through a side puncture cyst guided by ultrasound prior to durotomy, it was possible to resect the lesion without this complication.

Síndrome meningeo como manifestación de apoplejia hipofisiaria, análisis prospectivo de siete casos / Meningeal syndrome as manifestation of pituitary apoplexy, prospective analysis of seven cases

Introducción: la apoplejía hipofisiaria es una grave pero poco frecuente emergencia médico -neuroquirúrgica, con una incidencia global reportada del 1 por ciento a 2 por ciento Es causado por una hemorragia o infarto en relación a la glándula pituitaria, pudiendo existir extravasación de contenido necrótico o hemorrágico al espacio subaracnoideo, manifestándose como un síndrome meníngeo aséptico o hemorrágico. Sin embargo, su frecuencia no está estudiada. Material y Métodos: Se realizó un registro prospectivo entre enero de 2013 y agosto de 2014, para el estudio de líquido céfalo raquídeo, en pacientes con diagnóstico clínico- imagenológico de apoplejía hipofisiaria. Además un registró detallado de las manifestaciones clínicas y de laboratorio. Resultados: En este período se reclutaron 8 casos con apoplejía hipofisiaria clínica, de los cuales 7 fueron incluidos, siendo excluido un paciente por rechazar su participación en el estudio. De los 7 pacientes restantes, se evidenciaron signos meníngeos clínicos en el 86 por ciento (6/7), confirmando alteraciones del estudio cito-químico en todos ellos. En cada caso se descartó patología infecciosa o vascular como etiología. Conclusión: Si bien el debut de una apoplejía hipofisiaria como un síndrome meníngeo aséptico o hemorragia subaracnoidea, se encuentra documentado como casos anecdóticos, nuestros resultados apuntan a que sería una manifestación frecuente e importante a considerar para un adecuado diagnóstico diferencial y monitoreo de complicaciones infrecuentes.

Introduction: pituitary apoplexy is a serious but rare neurosurgical emergency, with an overall reported incidence of 1 percent to 2 percent. It is caused by bleeding or infarction related to the pituitary gland, there may be necrotic or hemorrhagic extravasation content to the subarachnoid space, manifesting as an aseptic o hemorrhagic meningeal syndrome. However, their frequency is not studied. Material and Methods: A prospective registry between January 2013 and August 2014, for the study of cerebro spinal fluid in patients with clinical and imaging diagnosis of pituitary apoplexy was performed. In addition, a detailed analysis of the clinical sintoms and laboratory was recorded. Results: In this period, 8 cases with clinical pituitary apoplexy were recluted, of which 7 were included, being excluded from a patient who refuses to participate in the study. Of the remaining 7 patients,clinical meningeal signs were evident in 86 percent (6/7), confirming alterations cyto-chemical study all of them. In each case infectious or vascular pathology was ruled out as a cause. Conclusion: While the debut of a pituitary apoplexy as an aseptic meningeal syndrome or subarachnoid hemorrhage, is documented as anecdotal cases, our results would suggest that is a common and important manifestation, to consider an appropriate differential diagnosis and monitoring of rare complications.

Genetic contributions to circadian activity rhythm and sleep pattern phenotypes in pedigrees segregating for severe bipolar disorder.

Abnormalities in sleep and circadian rhythms are central features of bipolar disorder (BP), often persisting between episodes. We report here, to our knowledge, the first systematic analysis of circadian rhythm activity in pedigrees segregating severe BP (BP-I). By analyzing actigraphy data obtained from members of 26 Costa Rican and Colombian pedigrees [136 euthymic (i.e., interepisode) BP-I individuals and 422 non-BP-I relatives], we delineated 73 phenotypes, of which 49 demonstrated significant heritability and 13 showed significant trait-like association with BP-I. All BP-I-associated traits related to activity level, with BP-I individuals consistently demonstrating lower activity levels than their non-BP-I relatives. We analyzed all 49 heritable phenotypes using genetic linkage analysis, with special emphasis on phenotypes judged to have the strongest impact on the biology underlying BP. We identified a locus for interdaily stability of activity, at a threshold exceeding genome-wide significance, on chromosome 12pter, a region that also showed pleiotropic linkage to two additional activity phenotypes.

Brain structure-function associations in multi-generational families genetically enriched for bipolar disorder.

Recent theories regarding the pathophysiology of bipolar disorder suggest contributions of both neurodevelopmental and neurodegenerative processes. While structural neuroimaging studies indicate disease-associated neuroanatomical alterations, the behavioural correlates of these alterations have not been well characterized. Here, we investigated multi-generational families genetically enriched for bipolar disorder to: (i) characterize neurobehavioural correlates of neuroanatomical measures implicated in the pathophysiology of bipolar disorder; (ii) identify brain-behaviour associations that differ between diagnostic groups; (iii) identify neurocognitive traits that show evidence of accelerated ageing specifically in subjects with bipolar disorder; and (iv) identify brain-behaviour correlations that differ across the age span. Structural neuroimages and multi-dimensional assessments of temperament and neurocognition were acquired from 527 (153 bipolar disorder and 374 non-bipolar disorder) adults aged 18-87 years in 26 families with heavy genetic loading for bipolar disorder. We used linear regression models to identify significant brain-behaviour associations and test whether brain-behaviour relationships differed: (i) between diagnostic groups; and (ii) as a function of age. We found that total cortical and ventricular volume had the greatest number of significant behavioural associations, and included correlations with measures from multiple cognitive domains, particularly declarative and working memory and executive function. Cortical thickness measures, in contrast, showed more specific associations with declarative memory, letter fluency and processing speed tasks. While the majority of brain-behaviour relationships were similar across diagnostic groups, increased cortical thickness in ventrolateral prefrontal and parietal cortical regions was associated with better declarative memory only in bipolar disorder subjects, and not in non-bipolar disorder family members. Additionally, while age had a relatively strong impact on all neurocognitive traits, the effects of age on cognition did not differ between diagnostic groups. Most brain-behaviour associations were also similar across the age range, with the exception of cortical and ventricular volume and lingual gyrus thickness, which showed weak correlations with verbal fluency and inhibitory control at younger ages that increased in magnitude in older subjects, regardless of diagnosis. Findings indicate that neuroanatomical traits potentially impacted by bipolar disorder are significantly associated with multiple neurobehavioural domains. Structure-function relationships are generally preserved across diagnostic groups, with the notable exception of ventrolateral prefrontal and parietal association cortex, volumetric increases in which may be associated with cognitive resilience specifically in individuals with bipolar disorder. Although age impacted all neurobehavioural traits, we did not find any evidence of accelerated cognitive decline specific to bipolar disorder subjects. Regardless of diagnosis, greater global brain volume may represent a protective factor for the effects of ageing on executive functioning.

Manejo laparoscópico en ileocolitis por enfermedad de Crohn / Laparoscopic management in Crohn's ileocolitis

El abordaje laparoscópico es una herramienta útil y cada vez más usada, no solamente en la enfermedad de Crohn sino en la mayoría de enfermedades gastrointestinales a las que nos vemos enfrentados en el día a día, que ha demostrado ventajas ya conocidas en comparación con el abordaje abierto, tales como menor dolor, mas corta hospitalización y menor tiempo de recuperación, además de las ventajas cosméticas. Específicamente, en la enfermedad inflamatoria intestinal, no se ha demostrado ventaja del abordaje abierto en comparación con el laparoscópico, reportándose en las diferentes series presentadas que las tasas de complicaciones posoperatorias son similares entre una y otra técnica, no hay diferencia significativa en relación con la recurrencia de la enfermedad; estos resultados dependen de la experiencia del cirujano que realice el procedimiento por laparoscopia. Se revisan las indicaciones, contraindicaciones y recomendaciones para el abordaje laparoscópico en la enfermedad de Crohn, con ocasión de un paciente de nuestra institución en quien el abordaje laparoscópico no fue posible por dificultades técnicas.

The laparoscopic approach is an effective tool and increasingly used technique not only in Crohn's disease, but in most gastrointestinal diseases that we face in the day to day practice, demonstrating the known advantages as compared to the open approach, such as lesser pain, reduced hospital stay and shorter recovery time, in addition to the cosmetic benefits. Specifically, in the inflammatory bowel disease there has not been demonstration of any advantage over the open approach, with the different series reporting postoperative complication rates that are similar among the one and the other techniques, and no significant differences in relation to recurrence. These results depend on the experience of the surgeon performing the procedure.

Multisystem component phenotypes of bipolar disorder for genetic investigations of extended pedigrees.

IMPORTANCE: Genetic factors contribute to risk for bipolar disorder (BP), but its pathogenesis remains poorly understood. A focus on measuring multisystem quantitative traits that may be components of BP psychopathology may enable genetic dissection of this complex disorder, and investigation of extended pedigrees from genetically isolated populations may facilitate the detection of specific genetic variants that affect BP as well as its component phenotypes. OBJECTIVE: To identify quantitative neurocognitive, temperament-related, and neuroanatomical phenotypes that appear heritable and associated with severe BP (bipolar I disorder [BP-I]) and therefore suitable for genetic linkage and association studies aimed at identifying variants contributing to BP-I risk. DESIGN, SETTING, AND PARTICIPANTS: Multigenerational pedigree study in 2 closely related, genetically isolated populations: the Central Valley of Costa Rica and Antioquia, Colombia. A total of 738 individuals, all from Central Valley of Costa Rica and Antioquia pedigrees, participated; among them, 181 have BP-I. MAIN OUTCOMES AND MEASURES: Familial aggregation (heritability) and association with BP-I of 169 quantitative neurocognitive, temperament, magnetic resonance imaging, and diffusion tensor imaging phenotypes. RESULTS: Of 169 phenotypes investigated, 126 (75%) were significantly heritable and 53 (31%) were associated with BP-I. About one-quarter of the phenotypes, including measures from each phenotype domain, were both heritable and associated with BP-I. Neuroimaging phenotypes, particularly cortical thickness in prefrontal and temporal regions as well as volume and microstructural integrity of the corpus callosum, represented the most promising candidate traits for genetic mapping related to BP based on strong heritability and association with disease. Analyses of phenotypic and genetic covariation identified substantial correlations among the traits, at least some of which share a common underlying genetic architecture. CONCLUSIONS AND RELEVANCE: To our knowledge, this is the most extensive investigation of BP-relevant component phenotypes to date. Our results identify brain and behavioral quantitative traits that appear to be genetically influenced and show a pattern of BP-I association within families that is consistent with expectations from case-control studies. Together, these phenotypes provide a basis for identifying loci contributing to BP-I risk and for genetic dissection of the disorder.

Reconstructing Native American population history.

The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved. One contentious issue is whether the settlement occurred by means of a single migration or multiple streams of migration from Siberia. The pattern of dispersals within the Americas is also poorly understood. To address these questions at a higher resolution than was previously possible, we assembled data from 52 Native American and 17 Siberian groups genotyped at 364,470 single nucleotide polymorphisms. Here we show that Native Americans descend from at least three streams of Asian gene flow. Most descend entirely from a single ancestral population that we call 'First American'. However, speakers of Eskimo-Aleut languages from the Arctic inherit almost half their ancestry from a second stream of Asian gene flow, and the Na-Dene-speaking Chipewyan from Canada inherit roughly one-tenth of their ancestry from a third stream. We show that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. A major exception is in Chibchan speakers on both sides of the Panama isthmus, who have ancestry from both North and South America.