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Studying phenotypic and genetic characteristics of age at onset (AAO) and polarity at onset (PAO) in bipolar disorder can provide new insights into disease pathology and facilitate the development of screening tools.
To examine the genetic architecture of AAO and PAO and their association with bipolar disorder disease characteristics.
Genome-wide association studies (GWASs) and polygenic score (PGS) analyses of AAO (n = 12 977) and PAO (n = 6773) were conducted in patients with bipolar disorder from 34 cohorts and a replication sample (n = 2237). The association of onset with disease characteristics was investigated in two of these cohorts.
Earlier AAO was associated with a higher probability of psychotic symptoms, suicidality, lower educational attainment, not living together and fewer episodes. Depressive onset correlated with suicidality and manic onset correlated with delusions and manic episodes. Systematic differences in AAO between cohorts and continents of origin were observed. This was also reflected in single-nucleotide variant-based heritability estimates, with higher heritabilities for stricter onset definitions. Increased PGS for autism spectrum disorder (β = −0.34 years, s.e. = 0.08), major depression (β = −0.34 years, s.e. = 0.08), schizophrenia (β = −0.39 years, s.e. = 0.08), and educational attainment (β = −0.31 years, s.e. = 0.08) were associated with an earlier AAO. The AAO GWAS identified one significant locus, but this finding did not replicate. Neither GWAS nor PGS analyses yielded significant associations with PAO.
AAO and PAO are associated with indicators of bipolar disorder severity. Individuals with an earlier onset show an increased polygenic liability for a broad spectrum of psychiatric traits. Systematic differences in AAO across cohorts, continents and phenotype definitions introduce significant heterogeneity, affecting analyses.
The incidence of airway obstruction in patients with complex CHD other than vascular rings and absent pulmonary valve syndrome is unknown. We reviewed pre-operative CT and clinical data of children with conotruncal abnormalities to assess for airway obstruction. Airway obstruction was common (41% of patients), often moderate to severe, of diverse aetiology, and most commonly associated with a right aortic arch. Patients with airway obstruction showed a trend towards a higher mortality rate. Patients with complex conotruncal abnormalities should be assessed for airway obstruction as it may help predict the need for additional interventions and assist with prognostication.
Reproductive traits have a major influence on the economic effectiveness of horse breeding. However, there is little information available. We evaluated the use of reproductive traits as selection criteria in official breeding programs to increase the reproductive efficiency of breeding studs, analysing 696 690 records from the pedigree data of eight Spanish horse populations, with different breeding purposes. The reproductive parameters studied in both sexes were age at first foaling (AFF), age at last foaling, average reproductive life and generational interval. In the females, the average interval between foaling (AIF) and interval between first and second foaling were also studied. There were clear differences between sexes and breeds, which may be due to management practices, breeding purposes and the status of the populations, rather than to differences in actual physiological conditions. Riding mares were the most precocious (AFF, 1937.64 to 2255.69 days) and had a more intensive reproductive use (AIF, 625.83 to 760.07 days), whereas sires used for meat production were the most precocious males (AFF, 1789.93 to 1999.75 days), although they had a shorter reproductive life (1564.34 to 1797.32 days). Heritabilities (0.02 to 0.42 in females and 0.04 to 0.28 in males) evidenced the genetic component of the reproductive traits, with Sport Horses having the higher average values. These results support the selection by AFF to improve reproductive aspects because of its medium–high heritability and its positive correlations with other important reproductive traits. The inclusion of the AIF is also recommended in sport populations, because this determines the length of the breaks between foaling and conditions the reproductive performance of the dams, as well as their selective intensity, genetic gain and genetic improvement. It is therefore an important economic parameter in breeding studs.
Despite the well-known relevance of twin studies in the medical and social sciences and the growing number of twin registries throughout the world, Latin America has not fully incorporated into the twin research community. We describe the first steps taken toward developing a twin registry in Mexico: its aim, organization, recruiting potential and main short-term objectives.
To develop a new predictive equation for fat mass percentage (%FM) based on anthropometric measurements and to assess its ability to discriminate between obese and non-obese individuals.
Adults (n 275; 181 women) aged 20–63 years with BMI between 17·4 and 42·4 kg/m2.
Thirty-seven per cent of our sample was obese using %FM measured by air-displacement plethysmography (BOD POD®; Life Measurement Instruments). The fat mass was computed from the difference between weight and fat-free mass (FFM). FFM was estimated using an equation obtained previously in the study from weight, height and sex of the individuals. The %FM estimated from the obtained FFM showed a sensitivity of 90·3 (95 % CI 86·8, 93·8) % and a specificity of 58·0 (95 % CI 52·1, 63·8) % in the diagnosis of obesity. Ninety-three per cent of participants with obesity and 65 % of participants without obesity were correctly classified.
The anthropometry-based equation obtained in the present study could be used as a screening tool in clinical and epidemiological studies not only to estimate the %FM, but also to discriminate the obese condition in populations with similar characteristics to the participant sample.
The present work is aimed to study a comparison among synthesized graphene films, deposited on copper substrates and commercial graphene films; both decorated with Eu2O3 particles, with the purpose of promoting photoluminescence. The decoration procedure was achieved using the radio frequency sputtering (R.F. Sputtering) technique for the deposition of Eu2O3 on synthesized or commercial graphene films. The SEM obtained images, show differences in morphology when commercial and synthesized graphene films are compared. Our results indicate that the type of surface is the main factor that accounts for the europium oxide spatial distribution that ultimately leads to luminescence enhancing. The x-ray photoelectron spectroscopy (XPS) analyses, showed the trivalent oxidation state of europium and the atomic content of Europium for both; the commercial graphene film and synthesized one, where the first one presented the higher europium concentration. Analysis by Raman spectroscopy reveals that graphene films become disordered after the decoration is achieved. The main Raman bands of the commercial graphene films undergo a remarkable red shift, as a consequence of the presence of europium oxide It was observed that the interaction of Eu2O3 with the sp2 levels of graphene, improves the red photoluminescence of the samples grown on both, commercial and prepared graphene films.
The excessive consumption of carbohydrates is related to non-alcoholic fatty liver disease (NAFLD) in infants and adults. The effect of combining maternal malnutrition and a high carbohydrate intake on the development of NAFLD in adulthood remains unknown. We therefore hypothesized that consumption of 5% sucrose by the offspring of dams fed a low-protein diet during pregnancy promotes liver fat accumulation and oxidative damage differently in females and males. To test this, 12-month-old female and male offspring of mothers fed a Control (C) or low-protein diet (Restricted, R) were provided with either tap water or 5% sucrose for a period of 10 weeks. Livers were excised to measure the fat content and 3-nitrotyrosine (3-NTyr) immunostaining; serum samples were also obtained to measure the concentration of malondialdehyde (MDA). Data were analyzed using a non-repeated measures three-way analysis of variance to determine significant differences (P<0.05) regarding to the interaction among maternal diet, sucrose consumption and sex. Results showed that the liver fat content of females from R mothers was higher than that of their male counterpart. Hepatic 3-NTyr immunostaining and serum MDA concentrations were not affected by the interaction involving maternal diet, sucrose consumption and sex. Otherwise, liver fat content was correlated with the hepatic 3-NTyr immunostaining and serum MDA concentrations only in females. Thus, sucrose intake in adulthood increases fat content in the female but not in the male rat offspring of dams fed with a low-protein diet during pregnancy. This research emphasizes the importance of a balanced diet during pregnancy and the influence of the diet on the adult offspring.
Although quality of life (QoL) is receiving increasing attention in bipolar disorder (BD) research and practice, little is known about its naturalistic trajectory. The dual aims of this study were to prospectively investigate: (a) the trajectory of QoL under guideline-driven treatment and (b) the dynamic relationship between mood symptoms and QoL.
In total, 362 patients with BD receiving guideline-driven treatment were prospectively followed at 3-month intervals for up to 5 years. Mental (Mental Component Score – MCS) and physical (Physical Component Score – PCS) QoL were measured using the self-report SF-36. Clinician-rated symptom data were recorded for mania and depression. Multilevel modelling was used to analyse MCS and PCS over time, QoL trajectories predicted by time-lagged symptoms, and symptom trajectories predicted by time-lagged QoL.
MCS exhibited a positive trajectory, while PCS worsened over time. Investigation of temporal relationships between QoL and symptoms suggested bidirectional effects: earlier depressive symptoms were negatively associated with mental QoL, and earlier manic symptoms were negatively associated with physical QoL. Importantly, earlier MCS and PCS were both negatively associated with downstream symptoms of mania and depression.
The present investigation illustrates real-world outcomes for QoL under guideline-driven BD treatment: improvements in mental QoL and decrements in physical QoL were observed. The data permitted investigation of dynamic interactions between QoL and symptoms, generating novel evidence for bidirectional effects and encouraging further research into this important interplay. Investigation of relevant time-varying covariates (e.g. medications) was beyond scope. Future research should investigate possible determinants of QoL and the interplay between symptoms and wellbeing/satisfaction-centric measures of QoL.
Poor maternal nutrition predisposes offspring to metabolic disease. This predisposition is modified by various postnatal factors. We hypothesised that coupled to the initial effects of developmental programming due to a maternal low-protein diet, a second hit resulting from increased offspring postnatal sugar consumption would lead to additional changes in metabolism and adipose tissue function. The objective of the present study was to determine the effects of sugared water consumption (5 % sucrose in the drinking-water) on adult offspring adiposity as a ‘second hit’ following exposure to maternal protein restriction during pregnancy. We studied four offspring groups: (1) offspring of mothers fed the control diet (C); (2) offspring of mothers fed the restricted protein diet (R); (3) offspring of control mothers that drank sugared water (C-S); (4) offspring of restricted mothers that drank sugared water (R-S). Maternal diet in pregnancy was considered the first factor and sugared water consumption as the second factor – the second hit. Body weight and total energy consumption, before and after sugared water consumption, were similar in all the groups. Sugared water consumption increased TAG, insulin and cholesterol concentrations in both the sexes of the C-S and R-S offspring. Sugared water consumption increased leptin concentrations in the R-S females and males but not in the R offspring. There was also an interaction between sugared water and maternal diet in males. Sugared water consumption increased adipocyte size and adiposity index in both females and males, but the interaction with maternal diet was observed only in females. Adiposity index and plasma leptin concentrations were positively correlated in both the sexes. The present study shows that a second hit during adulthood can amplify the effects of higher adiposity arising due to poor maternal pregnancy diet in an offspring sex dependent fashion.
The aims of this study were, first, to evaluate eye temperature (ET) with infrared thermography and heart rate (HR) to measure stress in horses during show jumping competitions and their relationship with competition results, and second, to evaluate the influence of different extrinsic and intrinsic factors of the horse on the stress measurements analysed. One hundred and seventy-three Spanish Sport Horses were analysed for ET and HR, and these measurements were taken 3 h before the competition, just after and 3 h after it. Two interval measurements were also assessed for each parameter. Positive significant correlations were found between ET and HR, measured before (r=0.23), just after competition (r=0.28) and for the later interval (r=0.26), whereas negative correlations with competition results were found only for ET when measured just after competing (r=−0.25). Two intrinsic factors (genetic line and age) and no extrinsic factors showed significant differences for ET, whereas one intrinsic factor (age) and two extrinsic factors (journey duration and number of training hours) showed significant differences for HR. The marginal means showed significantly higher ET values for the Anglo-Arab genetic line and for 5-year-old animals. HR values were significantly higher for 4-year-old animals, for horses which had travelled 4 to 6 h and for horses that had 3 to 6 h of daily training. This study suggests that, although ET and HR seemed to share a similar physiological basis, the factors that most influenced each parameter were different. Finally, ET seems to be a suitable tool for assessing stress during show jumping competitions in horses.
Serum samples collected during the National Health and Nutrition survey (ENSANUT 2006) were obtained from subjects aged 1–95 years (January–October 2010) and analysed to assess the seroprevalence of Bordetella pertussis (BP) in Mexico. Subjects' gender, age, geographical region and socioeconomic status were extracted from the survey and compiled into a subset database. A total of 3344 subjects (median age 29 years, range 1–95 years) were included in the analysis. Overall, BP seroprevalence was 47·4%. BP seroprevalence was significantly higher in males (53·4%, P = 0·0007) and highest in children (59·3%) decreasing with advancing age (P = 0·0008). BP seroprevalence was not significantly different between regions (P = 0·1918) and between subjects of socioeconomic status (P = 0·0808). Women, adolescents and young adults were identified as potential sources of infection to infants. Booster vaccination for adolescents and primary contacts (including mothers) for newborns and infants may provide an important public health intervention to reduce the disease burden.
A method to quantify the contribution of subpopulations to genetic diversity in the whole population was assessed using pedigree information. The standardization of between- and within-subpopulation mean coancestries was developed to account for the different coat colour subpopulation sizes in the Spanish Purebred (SPB) horse population. The data included 166264 horses registered in the SPB Studbook. Animals born in the past 11 years (1996 to 2006) were selected as the ‘reference population’ and were grouped according to coat colour into eight subpopulations: grey (64 836 animals), bay (33 633), black (9414), chestnut (1243), buckskin (433), roan (107), isabella (57) and white (37). Contributions to the total genetic diversity were first assessed in the existing subpopulations and later compared with two scenarios with equal subpopulation size, one with the mean population size (13 710) and another with a low population size (100). Ancestor analysis revealed a very similar origin for the different groups, except for six ancestors that were only present in one of the groups likely to be responsible for the corresponding colour. The coancestry matrix showed a close genetic relationship between the bay and chestnut subpopulations. Before adjustment, Nei’s minimum distance showed a lack of differentiation among subpopulations (particularly among the black, chestnut and bay subpopulations) except for isabella and white individuals, whereas after adjustment, white, roan and grey individuals appeared less differentiated. Standardization showed that balancing coat colours would contribute preserving the genetic diversity of the breed. The global genetic diversity increased by 12.5% when the subpopulations were size standardized, showing that a progressive increase in minority coats would be profitable for the genetic diversity of this breed. The methodology developed could be useful for the study of the genetic structure of subpopulations with unbalanced sizes and to predict their genetic importance in terms of their contribution to genetic variability.
6201 aluminum alloy is mostly used in electrical conductors for overhead transmission lines due to its excellent mechanical and electrical properties besides to an excellent corrosion resistance. This alloy is heat treatable and the thermal treatment is performed with the objective of obtain the optimal properties for its application. In this work it was studied the effect of different deformation grades, time variation of natural aging as well as the time and temperature of artificial aging on the evolution of mechanical and electrical properties. It was found that solution treated wires at 560°C by 4h, 14 days natural aged, 92% cold deformed and artificial aged at 165°C by 7h, reach a tensile stress of 326 MPa and an electrical conductivity of 57.2%IACS (International Annealed Copper Standard).
We present a new spectral library for old and intermediate-aged single-age, single-metallicity stellar populations for a wide metallicity range. The major ingredient of these models is a new empirical stellar library composed of 985 stars, whose main characteristic is its unprecedented stellar atmospheric parameters coverage. The model SEDs cover the spectral range 3540-7410A at 2.3A (FWHM). We present some advantages and applications of these models.
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