The polygenic basis of relapse after a first episode of schizophrenia.

Little is known about genetic predisposition to relapse. Previous studies have linked cognitive and psychopathological (mainly schizophrenia and bipolar disorder) polygenic risk scores (PRS) with clinical manifestations of the disease. This study aims to explore the potential role of PRS from major mental disorders and cognition on schizophrenia relapse. 114 patients recruited in the 2EPs Project were included (56 patients who had not experienced relapse after 3 years of enrollment and 58 patients who relapsed during the 3-year follow-up). PRS for schizophrenia (PRS-SZ), bipolar disorder (PRS-BD), education attainment (PRS-EA) and cognitive performance (PRS-CP) were used to assess the genetic risk of schizophrenia relapse.Patients with higher PRS-EA, showed both a lower risk (OR=0.29, 95% CI [0.11-0.73]) and a later onset of relapse (30.96± 1.74 vs. 23.12± 1.14 months, p=0.007. Our study provides evidence that the genetic burden of neurocognitive function is a potentially predictors of relapse that could be incorporated into future risk prediction models. Moreover, appropriate treatments for cognitive symptoms appear to be important for improving the long-term clinical outcome of relapse.

Advertising Games of Chance in Adolescents and Young Adults in Spain.

Gambling advertising can influence attitudes and gaming behavior of adolescents and young adults (A&Y). To study the effect of advertising on the attitudes and gaming behavior of a sample of 2887 Spanish A&Y (12-22 years old), by means of a self-report assessment. On average, participants show a weak effect of advertising, however there are great variations, estimating that 11% of A&Y acknowledge being influenced by advertising and 5% recognize being severely affected. Men see themselves more impacted than women, without age differences. Those who play videogames signal a stronger effect of this kind of advertising and although these differences are not substantial in effect size, they reach statistically significance in 12 of the 13 questions assessed. A&Y who showed higher scores indicating problematic use of videogames in the IDGS9-SF, are those who indicate a greater impact of advertising on their attitudes towards gaming, as well as on the way they play or on their intention to play. These results support the idea that videogames can, albeit modestly, predispose engagement in games of chance.

Reference values for biochemical analytes in feral sheep from Socorro Island, Revillagigedo Archipelago, Mexico / [Valores de referência para analitos bioquímicos em carneiros selvagens na Ilha Socorro, Arquipélago de Revillagigedo, México]

To establish reference values for biochemical analytes related to freshwater shortage adaptation, a total of 376 blood samples were collected from feral sheep at Socorro Island, Revillagigedo Archipelago. Year-round variation was assessed by sampling at the beginning of each season defined by the March equinox, June solstice, September equinox, and December solstice. The resulting data set was analyzed using Gaussian distribution and descriptive statistics. Confidence intervals of 95% were established. Analysis of variance was used to compare the mean values of each season. Total cholesterol, triglycerides, urea, albumin, total protein, sodium ion, anion gap, creatine kinase, arginine vasopressin, and aldosterone showed concentrations above the reference range for domestic sheep. Triglycerides, urea, albumin, sodium ion, and aldosterone showed concentrations within the reference range for domestic goats. Most biochemical analytes showed differences (P<0.05) between seasons, with the highest values occurring during winter, and the lowest during spring. Results could help improve the accuracy of metabolic profiles used as a tool for evaluating dehydration indicators, and to describe the physiological mechanisms employed by feral sheep to cope with seasonal availability of freshwater.(AU)

Para estabelecer valores de referência para analitos bioquímicos relacionados à adaptação da escassez de água doce, um total de 376 amostras de sangue foram coletadas de carneiros selvagens na ilha de Socorro, no arquipélago de Revillagigedo. A variação durante todo o ano foi avaliada por amostragem no início de cada estação definida pelo equinócio de março, solstício de junho, equinócio de setembro e solstício de dezembro. O conjunto de dados resultante foi analisado usando distribuição Gaussiana e estatística descritiva. Intervalos de confiança de 95% foram estabelecidos. A análise de variância foi usada para comparar os valores médios de cada estação. O colesterol total, triglicerídeos, ureia, albumina, proteína total, íon sódio, hiato aniônico, creatina quinase, arginina vasopressina e aldosterona apresentaram concentrações acima do intervalo de referência para carneiros domésticos. Triglicerídeos, ureia, albumina, íon sódio e aldosterona apresentaram concentrações dentro da faixa de referência para cabras domésticas. A maioria dos analitos bioquímicos apresentou diferenças (P<0,05) entre as estações, com os maiores valores ocorrendo no inverno e os menores na primavera. Os resultados podem ajudar a melhorar a precisão dos perfis metabólicos usados como uma ferramenta para avaliar os indicadores de desidratação e descrever os mecanismos fisiológicos empregados pelas carneiros selvagens para lidar com a disponibilidade sazonal de água doce.(AU)

The impact of perimenopausal symptomatology, sociodemographic status and knowledge of menopause on women's quality of life.

BACKGROUND: A high percentage of menopausal and perimenopausal women suffer symptoms that deteriorate their quality of life (QoL) significantly. Many studies have focused on the relationship between perimenopausal symptoms and QoL, yet the results obtained have been inconclusive. The aim of this study is to evaluate the relationships among the symptoms of menopause, sociodemographic variables, knowledge of menopause and QoL. METHOD: Sociodemographic and clinical data was collected from interviews of 453 women in Madrid, and they also completed questionnaires related to perimenopausal symptomatology (MRS, MENQOL), knowledge of menopause and QoL. RESULTS: Although dependent on the assessment techniques, all the tools used indicated that more than half of the women studied suffered perimenopausal symptomatology: interview (59.1%), MENQOL (69.2%) and MRS (65.1%). Stronger symptoms were related to a worse QoL (R2 = 0.287 for MENQOL; R2 = 0.390 for MRS), being psychosocial/psychological and urogenital/sexual symptomatology, and educational level and knowledge about menopause the most strongly related to this parameter. Taking into account the main perimenopausal symptoms in Europe, psychosocial and sexual symptoms are also found to be strongly related to QoL. CONCLUSION: Perimenopausal symptomatology is frequent and intense, deteriorating women's QoL. While psychosocial and somatic/physical symptoms are the most frequent and intense, psychosocial/psychological and urogenital/sexual are those that best predict the individual's QoL. Educational level and knowledge about menopause are also related to a better QoL.

Catechol-based layer-by-layer assembly of composite coatings: a versatile platform to hierarchical nano-materials.

Inspired by the marine mussel's ability to adhere to surfaces underwater, an aqueous catechol-based dip coating platform was developed. Using a catechol-functionalized polyacrylamide binder in combination with inorganic nanoparticles enables the facile fabrication of robust composite coatings via a layer-by-layer process. This modular assembly of well-defined building blocks provides a versatile alternative to electrostatic driven approaches with layer thickness and refractive indices being readily tunable. The platform nature of this approach enables the fabrication of hierarchically ordered nano-materials such as Bragg stacks.

NAT2 gene polymorphisms in three indigenous groups in the Colombian Caribbean Coast region / Polimorfismo del Gen NAT2 en tres grupos indígenas de la región Caribe Colombiana

Objective: To study the NAT2 gene polymorphisms 481T, 590A and 857A in the Chimila, Wiwa and Wayuu indigenous groups of the Colombian Caribbean to determine the frequencies of the alleles NAT2*4, NAT2*5, NAT2*6, and NAT2*7 and to determine the types of acetylators present in these populations. Methods: A total of 202 subjects were studied: 47 Chimila, 55 Wiwa, and 100 Wayuu. The polymorphisms were identified using a real-time PCR method for allelic discrimination designed using Taqman of Applied Biosystems. Results: The following alleles were found at the highest frequency in the following groups: the NAT2*4 allele (wild type) in the Wayuu group (55.3%), the NAT2*5 allele in the Wiwa group (34.5%), and the NAT2*7 allele in the Chimila group (24.2%). A higher frequency of the rapid acetylator status was found in the Wayuu group (31.3%) and Chimila group (29.5%) compared with the Wiwa group (12.7%). The intermediate acetylator status distribution was very similar in all three groups, and the frequency of the slow acetylator status was higher in the Wiwa group (32.7%) compared with the Chimila and Wayuu groups (20.5% and 21.2%, respectively). Conclusion: The results demonstrated the allelic distribution and pharmacogenetic differences of the three groups studied and revealed the most frequent acetylator status and phenotype. Because of the high prevalence of slow acetylators, a greater incidence of tuberculosis (TB) drug-induced hepatotoxicity is predicted in these populations, with a higher frequency in the Wiwa group.

Objetivo: Estudiar los polimorfismos tipo SNP (del inglés- single nucleotide polymorphism) 481T, 590A y 857A del gen NAT2, en los grupos indígenas Chimila, Wiwa y Wayúu del Caribe Colombiano para determinar las frecuencias de los alelos NAT2*4, NAT2*5, NAT2*6 y NAT2*7 y caracterizar el tipo de acetiladores presentes en estas poblaciones. Métodos: Se estudiaron 202 individuos en total, 47 Chimila, 55 Wiwa y 100 Wayúu. Los polimorfismos se determinaron mediante la técnica de PCR en tiempo real por el método de discriminación alélica Taqman de Applied Biosystems. Resultados: El alelo NAT2*4 (wild type) mostró una mayor frecuencia en el grupo Wayúu (55.3%), el alelo NAT2*5 en el grupo Wiwa (34.5%) y el alelo NAT2*7 en el grupo Chimila (24.2%). Se encontró una mayor frecuencia del estado acetilador rápido en el grupo Wayúu (31.3%) y en el grupo Chimila (29.5%) al compararse con el grupo Wiwa (12.7%). La distribución del estado acetilador intermedio es muy similar en los tres grupos, y para el estado acetilador lento observamos que en el grupo Wiwa la frecuencia es mayor (32.7%) con respecto a Chimila y Wayúu con 20.5% y 21.2% respectivamente. Conclusiones: Los resultados permitieron conocer la distribución alélica y el componente farmacogenético de los tres grupos estudiados; igualmente, deducir el estado acetilador y/o fenotipo más frecuente. Debido a la alta prevalencia de acetiladores lentos, se podría predecir un aumento de la incidencia de hepatotóxicidad inducida por medicamentos antituberculosos como la Isoniacida indicados en estas poblaciones y en mayor frecuencia en el grupo Wiwa.

Estudio epidemiológico multivariable del paciente con fractura osteoporótica de fémur proximal / Multivariate epidemiological study of the patient with osteoporotic proximal femoral fracture

Objetivo: Revisar las fracturas de cadera en personas mayores de 50 años para valorar cómo afectan las comorbilidades asociadas al pronóstico. Material y método: Estudiamos 200 pacientes mayores de 50 años tratados de fractura de fémur proximal mediante un análisis retrospectivo de las variables, con el fin de valorar el pronóstico y la calidad de vida residual. Resultados: Observamos una tendencia, sin significación estadística, de a mayor edad del paciente, mayor probabilidad de que su fractura sea extracapsular. El índice de Singh no se correlacionó con el tipo de fractura. La carencia de vitamina D fue una constante. Hallamos una correlación entre la comorbilidad y el grado de insuficiencia renal (creatinina). No hubo incremento de estancia media en pacientes con mayor número de patologías. La demora quirúrgica no prolongó el tiempo de hospitalización postquirúrgica. Conclusión: El paciente osteoporótico con fractura de cadera ha de ser tratado de una manera multidisciplinar. Son muchos los factores que condicionarán su pronóstico y situación funcional final (AU)

Objective: To review hip fractures in patients over 50 years of age, with a view to assessing how they affect the comorbidities associated to the prognosis. Material and method: The study comprised a total of 200 patients over 50 years of age treated for proximal femoral fractures, based on a retrospective analysis of the variables, in order to define the prognosis and residual quality of life. Results: Increased patient age was found to be associated to an increased probability of extracapsular fracture, though statistical significance was not reached. The Singh index was not correlated to the type of fracture. Vitamin D deficiency was a constant finding. A correlation was observed between comorbidity and the degree of renal failure (creatinine). There was no increase in hospital stay in patients with a larger number of disorders. Surgical delay did not prolong postoperative hospital stay. Conclusion: Osteoporotic hip fracture patients require multidisciplinary management. Many factors condition the prognosis and ultimate functional outcome (AU)

Hemoperfusión con polimixina B en shock séptico secundario a abscesos hepáticos por Klebsiella pneumoniae / Hemoperfusion with polymyxin B in septic shock secondary to Klebsiella pneumoniae induced liver abscesses

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[Prevalence and duration of breast-feeding: its influences on the weight and the morbidity]. / Prevalencia y duración de la lactancia materna: Influencia sobre el peso y la morbilidad.

OBJECTIVE: To estimate the prevalence and the average length of Lactation. To describe the development of the weight during the first year of life and the demand of paediatric consultations in relation to the type of lactation. METHODS: A cross-sectional study was done using retrospective data. There was gathered a random sample of clinical histories of born children between years 2000 and 2005. There was estimated the prevalence of breast-feeding from the beginning until three and six months. An index of global desertion was elaborated. The average weight and the number of paediatric consultations were related to the type of lactation. RESULTS: The children initiate exclusive breastfeeding (MEL) in a 63.5% (CI 95%: 58.6-64.5). 22.6% amount them (IC 95%: 18.4-26.9) remained it until six months age. After three months of MEL 43.4% of the subjects gave up exclusively lactation. At the age of six months only 33.6% remained with MEL. Mixed form of lactation (MTL) was kept in 80.5% of the subjects (IC 95%: 75.4-84.6). Children included in the program of MTL (exclusive or mixed) have a minor index of desertion (26.5% and 54.4% up to three and six months, respectively). A higher weight was detected in children with mixed lactation. Those on the MEL up to six months consulted the paediatrician 4.5 times a year, whereas children with artificial lactation did it 6.5 times during their first year of life. There were statistically significant differences found (p < 0.007). CONCLUSIONS: Percentage of lactation in the group studied is far from recommended levels (WHO). Exclusive breastfeeding (MEL) entails a suitable weight development, as well as a minor morbidity in the first year of life.

Prevalencia y duración de la lactancia materna. Influencia sobre el peso y la morbilidad / Prevalence and duration of breast-feeding. Its influences on the weight and the morbidity

Introducción y objetivos: Estimar la prevalencia y duración de la lactancia materna (LM). Describir la evolución del peso en el primer año de vida y la demanda de consultas al pediatra en relación al tipo de lactancia. Pacientes y métodos: Estudio transversal. Datos retrospectivos. Se recogió una muestra aleatoria de historias clínicas de niños nacidos entre 2000 y 2005. Se estimó la prevalencia de lactancia natural al inicio, a los tres y seis meses. Se elaboró un índice de deserción para la duración. Se comparó el peso medio y el número de consultas al pediatra con el tipo de lactancia. Resultados: Iniciaron la lactancia materna exclusiva (LME) un 63,5 % (IC 95%: 58,6-64,5). A los seis meses permanecen un 22,6 % (IC 95%: 18,4-26,9). Un 80,5% (IC 95%: 75,4-84,6) comienzan lactancia materna total -exclusiva o mixta- (LMT). El 43,4 % de los niños que empezaron con LME abandonaron a los tres meses y el 64,4% a los seis; mientras que los de LMT tienen índices de deserción menores, un 26,5% y un 54,4% a los tres y a los seis meses, respectivamente. Los niños con lactancia materna mixta (LMM) suelen tener un peso medio mayor. Los alimentados con la LME hasta los seis meses, consultan al pediatra, un promedio de 4,5 veces durante el primer año. Los de lactancia artificial en unas 6,5 ocasiones. Ambas medias son significativas estadísticamente (p < 0,007). Conclusiones: La lactancia materna en esta población se aparta de las recomendaciones de la OMS. Los resultados apuntan a que la LME conlleva una evolución del peso del niño más adecuada y una menor morbilidad, al menos en el primer año de vida (AU)

Objective: To estimate the prevalence and the average length of Lactation. To describe the development of the weight during the first year of life and the demand of paediatric consultations in relation to the type of lactation. Methods: A cross-sectional study was done using retrospective data. There was gathered a random sample of clinical histories of born children between years 2000 and 2005. There was estimated the prevalence of breast-feeding from the beginning until three and six months. An index of global desertion was elaborated. The average weight and the number of paediatric consultations were related to the type of lactation. Results: The children initiate exclusive breastfeeding (MEL) in a 63.5% (CI 95%: 58.6-64.5). 22.6% amount them (IC 95%: 18.4-26.9) remained it until six months age. After three months of MEL 43.4% of the subjects gave up exclusively lactation. At the age of six months only 33.6% remained with MEL. Mixed form of lactation (MTL) was kept in 80.5% of the subjects (IC 95%: 75.4-84.6). Children included in the program of MTL (exclusive or mixed) have a minor index of desertion (26.5% and 54.4% up to three and six months, respectively). A higher weight was detected in children with mixed lactation. Those on the MEL up to six months consulted the paediatrician 4.5 times a year, whereas children with artificial lactation did it 6.5 times during their first year of life. There were statistically significant differences found (p < 0.007). Conclusions: Percentage of lactation in the group studied is far from recommended levels (WHO). Exclusive breastfeeding (MEL) entails a suitable weight development, as well as a minor morbidity in the first year of life (AU)

Diagnosis and treatment of megaesophagus after adjustable gastric banding for morbid obesity.

BACKGROUND: Laparoscopic adjustable gastric banding (LAGB) can impair esophageal peristalsis and can also cause a lack of relaxation of the lower esophageal sphincter, possibly leading to esophageal dilation. The aim of the present study was to determine the incidence of megaesophagus, the role of preoperative manometry in predicting its occurrence, and the management of megaesophagus after gastric banding in the setting of a research clinic. METHODS: We performed a retrospective review of a prospectively collected database. A total of 257 patients underwent LAGB from January 2002 to December 2006. The incidence of megaesophagus, its relationship to the preoperative esophageal manometry and upper gastrointestinal series findings, and the treatment of patients with this complication were analyzed. RESULTS: Of the 257 patients, 5 (1.9%) presented with megaesophagus after gastric banding. The mean interval to development was 32 months (range 24-36). The diagnosis was made using the symptoms, signs, and upper gastrointestinal series findings. The preoperative esophageal manometry findings were normal in 4 (80%) of these 5 patients, and 1 patient (20%) had a nonspecific motility disorder. The mean age was 54.5 years (range 30-76). The mean preoperative weight was 127.1 kg (range 112.7-145.9), and the body mass index was 43.2 kg/m2 (range 41-49). In all cases, the management of megaesophagus was gastric band removal. All the patients improved partially after band deflation but required band removal because of continued symptoms. CONCLUSION: Megaesophagus is a possible late complication after LAGB. The preoperative manometry results cannot predict for its occurrence. The management of megaesophagus caused by LAGB requires, in most cases, band removal.

[Clinical findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria]. / Hallazgos clínicos y espectro mutacional en pacientes venezolanos con diagnóstico tardío de fenilcetonuria.

INTRODUCTION: Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1963, and eventually disappeared as a cause of mental retardation. Yet, this is not the case in most developing countries. AIM: To describe the phenotype and the genotype of PKU patients with a delayed diagnosis in order to draw attention to the importance of neonatal studies and molecular diagnosis. PATIENTS AND METHODS: Clinical data were collected from five unrelated patients by means of a medical assessment. The molecular study was conducted using the DGGE, sequencing and/or restriction analysis techniques to search for mutations in the PAH gene. RESULTS. Owing to the delayed diagnosis all the patients presented severe clinical manifestations, such as psychomotor retardation, atypical behaviours and language disorders. Four of them presented epilepsy and there were two cases of microcephaly. The phenotype was as expected, given the genotype. Seven different mutations were detected in the 10 alleles that were studied. The IVS10nt +5 g>t mutation was the most frequent, followed by the Venezuelan mutation S349L. Furthermore, two patients presented mutated proteins with residual activity, and good results were obtained using BH4 therapy. CONCLUSIONS: In our country, as in most developing countries, PKU neonatal studies are performed but the programme does not cover the whole neonatal population. In this work, we want to stress the importance of neonatal studies in the welfare of children, as well as the use of molecular diagnosis to improve the therapeutic orientation and genetic counselling of the families involved.

Hallazgos clínicos y espectro mutacional en pacientes venezolanos con diagnóstico tardío de fenilcetonuria / Clincial findings and mutational spectrum in Venezuelan patients with delayed diagnosis of phenylketonuria

Introducción. En 1963 comenzó el cribado neonatal masivo de fenilcetonuria (PKU) en países desarrollados, queacabó desapareciendo como causa de retraso mental. Sin embargo, éste no es el caso en la mayoría de los países en vías de desarrollo. Objetivo. Describir el fenotipo y el genotipo de pacientes con diagnóstico tardío de PKU, con el fin de resaltar la importancia del estudio neonatal y el diagnóstico molecular. Pacientes y métodos. Se recogieron datos clínicos de cinco pacientes no relacionados mediante evaluación médica. El estudio molecular se realizó empleando las técnicas de DGGE, secuenciación y/o análisis de restricción para la búsqueda de mutaciones en el gen PAH. Resultados. Todos los pacientes presentaronmanifestaciones clínicas graves debidas al diagnóstico tardío, como retraso psicomotor, conductas atípicas y trastornos del lenguaje. Cuatro de ellos presentaron epilepsia y dos, microcefalia. El fenotipo fue el esperado de acuerdo con el genotipo. Se detectaron siete mutaciones diferentes en los 10 alelos estudiados. La mutación IVS10nt+5g>t fue la más frecuente,seguida de la mutación venezolana S349L. Por otra parte, dos pacientes presentan proteínas mutadas con actividadresidual, y pudieron verse beneficiados de la terapia con BH4. Conclusiones. En Venezuela, al igual que en gran parte de los países en vías de desarrollo, se realiza el estudio neonatal de PKU pero el programa no cubre toda la población neonatal. En este trabajo se quiere destacar la importancia del estudio neonatal en el bienestar de los niños, y el uso del diagnóstico molecular para mejorar la orientación terapéutica y la asesoría genética de la familia

Introduction. Massive neonatal screening for phenylketonuria (PKU) began in developed countries in 1963, and eventually disappeared as a cause of mental retardation. Yet, this is not the case in most developing countries. Aim. To describe the phenotype and the genotype of PKU patients with a delayed diagnosis in order to draw attention to the importance of neonatal studies and molecular diagnosis. Patients and methods. Clinical data were collected from five unrelated patients by means of a medical assessment. The molecular study was conducted using the DGGE, sequencing and/or restriction analysis techniques to search for mutations in the PAH gene. Results. Owing to the delayed diagnosis all thepatients presented severe clinical manifestations, such as psychomotor retardation, atypical behaviours and language disorders. Four of them presented epilepsy and there were two cases of microcephaly. The phenotype was as expected, given the genotype. Seven different mutations were detected in the 10 alleles that were studied. The IVS10nt+5g>t mutation was themost frequent, followed by the Venezuelan mutation S349L. Furthermore, two patients presented mutated proteins with residual activity, and good results were obtained using BH4 therapy. Conclusions. In our country, as in most developingcountries, PKU neonatal studies are performed but the programme does not cover the whole neonatal population. In this work, we want to stress the importance of neonatal studies in the welfare of children, as well as the use of molecular diagnosis to improve the therapeutic orientation and genetic counselling of the families involved

Sacroilitis and Behçet disease / Sacroileitis y enfermedad de Behçet

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Observation of spontaneous self-channeling of light in air below the collapse threshold.

We report the observation of the self-guided propagation of 120 fs, 0.56 mJ infrared radiation in air for distances greater than 1 m. In contrast with the known case of filamentation, in the present experiment the laser power is lower than the collapse threshold. Therefore the counterbalance between Kerr self-focusing and ionization induced defocusing as the stabilizing mechanism is ruled out. Instead, we find evidence of a process in which the transversal beam distribution reshapes into a form similar to a Townes soliton, with the particularity of a very high stability. We include numerical support for this conclusion.