25 research outputs found

    Evaluation of the potential association of SOHLH2 polymorphisms with non-obstructive azoospermia susceptibility in a large European population

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    Non-obstructive azoospermia (NOA) or spermatogenic failure is a complex disease with an important genetic component that causes infertility in men. Known genetic factors associated with NOA include AZF microdeletions of the Y chromosome or karyotype abnormalities; however, most causes of NOA are idiopathic. During the last decade, a large list of associations between single-nucleotide polymorphisms (SNP) and NOA have been reported. However, most of the genetic studies have been performed only in Asian populations. We aimed to evaluate whether the previously described association in Han Chinese between NOA and two SNPs of the SOHLH2 gene (involved in the spermatogenesis process) may also confer risk for NOA in a population of European ancestry. We genotyped a total of 551 NOA patients (218 from Portugal and 333 from Spain) and 1,050 fertile controls (226 from Portugal and 824 from Spain) for the genetic variants rs1328626 and rs6563386 using TaqMan assays. To test for association, we compared the allele and genotype frequencies between cases and controls using an additive model. A haplotype analysis and a meta-analysis using the inverse variance method with our data and those of the original Asian study were also performed. No statistically significant differences were observed in any of the analyses described above. Therefore, considering the high statistical power of our study, it is not likely that the two analysed SOHLH2 genetic variants are related with an increase susceptibility to NOA in the European population.info:eu-repo/semantics/publishedVersio

    Brain imaging of the cortex in ADHD: a coordinated analysis of large-scale clinical and population-based samples

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    Objective: Neuroimaging studies show structural alterations of various brain regions in children and adults with attention deficit hyperactivity disorder (ADHD), although nonreplications are frequent. The authors sought to identify cortical characteristics related to ADHD using large-scale studies. Methods: Cortical thickness and surface area (based on the Desikan–Killiany atlas) were compared between case subjects with ADHD (N=2,246) and control subjects (N=1,934) for children, adolescents, and adults separately in ENIGMA-ADHD, a consortium of 36 centers. To assess familial effects on cortical measures, case subjects, unaffected siblings, and control subjects in the NeuroIMAGE study (N=506) were compared. Associations of the attention scale from the Child Behavior Checklist with cortical measures were determined in a pediatric population sample (Generation-R, N=2,707). Results: In the ENIGMA-ADHD sample, lower surface area values were found in children with ADHD, mainly in frontal, cingulate, and temporal regions; the largest significant effect was for total surface area (Cohen’s d=−0.21). Fusiform gyrus and temporal pole cortical thickness was also lower in children with ADHD. Neither surface area nor thickness differences were found in the adolescent or adult groups. Familial effects were seen for surface area in several regions. In an overlapping set of regions, surface area, but not thickness, was associated with attention problems in the Generation-R sample. Conclusions: Subtle differences in cortical surface area are widespread in children but not adolescents and adults with ADHD, confirming involvement of the frontal cortex and highlighting regions deserving further attention. Notably, the alterations behave like endophenotypes in families and are linked to ADHD symptoms in the population, extending evidence that ADHD behaves as a continuous trait in the population. Future longitudinal studies should clarify individual lifespan trajectories that lead to nonsignificant findings in adolescent and adult groups despite the presence of an ADHD diagnosis

    Integrated monitoring of mola mola behaviour in space and time

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    Over the last decade, ocean sunfish movements have been monitored worldwide using various satellite tracking methods. This study reports the near-real time monitoring of finescale (< 10 m) behaviour of sunfish. The study was conducted in southern Portugal in May 2014 and involved satellite tags and underwater and surface robotic vehicles to measure both the movements and the contextual environment of the fish. A total of four individuals were tracked using custom-made GPS satellite tags providing geolocation estimates of fine-scale resolution. These accurate positions further informed sunfish areas of restricted search (ARS), which were directly correlated to steep thermal frontal zones. Simultaneously, and for two different occasions, an Autonomous Underwater Vehicle (AUV) videorecorded the path of the tracked fish and detected buoyant particles in the water column. Importantly, the densities of these particles were also directly correlated to steep thermal gradients. Thus, both sunfish foraging behaviour (ARS) and possibly prey densities, were found to be influenced by analogous environmental conditions. In addition, the dynamic structure of the water transited by the tracked individuals was described by a Lagrangian modelling approach. The model informed the distribution of zooplankton in the region, both horizontally and in the water column, and the resultant simulated densities positively correlated with sunfish ARS behaviour estimator (r(s) = 0.184, p < 0.001). The model also revealed that tracked fish opportunistically displace with respect to subsurface current flow. Thus, we show how physical forcing and current structure provide a rationale for a predator's finescale behaviour observed over a two weeks in May 2014

    Analysis of structural brain asymmetries in attention-deficit/hyperactivity disorder in 39 datasets

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    Objective Some studies have suggested alterations of structural brain asymmetry in attention-deficit/hyperactivity disorder (ADHD), but findings have been contradictory and based on small samples. Here, we performed the largest ever analysis of brain left-right asymmetry in ADHD, using 39 datasets of the ENIGMA consortium. Methods We analyzed asymmetry of subcortical and cerebral cortical structures in up to 1,933 people with ADHD and 1,829 unaffected controls. Asymmetry Indexes (AIs) were calculated per participant for each bilaterally paired measure, and linear mixed effects modeling was applied separately in children, adolescents, adults, and the total sample, to test exhaustively for potential associations of ADHD with structural brain asymmetries. Results There was no evidence for altered caudate nucleus asymmetry in ADHD, in contrast to prior literature. In children, there was less rightward asymmetry of the total hemispheric surface area compared to controls (t = 2.1, p = .04). Lower rightward asymmetry of medial orbitofrontal cortex surface area in ADHD (t = 2.7, p = .01) was similar to a recent finding for autism spectrum disorder. There were also some differences in cortical thickness asymmetry across age groups. In adults with ADHD, globus pallidus asymmetry was altered compared to those without ADHD. However, all effects were small (Cohen’s d from −0.18 to 0.18) and would not survive study-wide correction for multiple testing. Conclusion Prior studies of altered structural brain asymmetry in ADHD were likely underpowered to detect the small effects reported here. Altered structural asymmetry is unlikely to provide a useful biomarker for ADHD, but may provide neurobiological insights into the trait

    Subcortical brain volume, regional cortical thickness, and cortical surface area across disorders: findings from the ENIGMA ADHD, ASD, and OCD Working Groups

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    Objective Attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and obsessive-compulsive disorder (OCD) are common neurodevelopmental disorders that frequently co-occur. We aimed to directly compare all three disorders. The ENIGMA consortium is ideally positioned to investigate structural brain alterations across these disorders. Methods Structural T1-weighted whole-brain MRI of controls (n=5,827) and patients with ADHD (n=2,271), ASD (n=1,777), and OCD (n=2,323) from 151 cohorts worldwide were analyzed using standardized processing protocols. We examined subcortical volume, cortical thickness and surface area differences within a mega-analytical framework, pooling measures extracted from each cohort. Analyses were performed separately for children, adolescents, and adults using linear mixed-effects models adjusting for age, sex and site (and ICV for subcortical and surface area measures). Results We found no shared alterations among all three disorders, while shared alterations between any two disorders did not survive multiple comparisons correction. Children with ADHD compared to those with OCD had smaller hippocampal volumes, possibly influenced by IQ. Children and adolescents with ADHD also had smaller ICV than controls and those with OCD or ASD. Adults with ASD showed thicker frontal cortices compared to adult controls and other clinical groups. No OCD-specific alterations across different age-groups and surface area alterations among all disorders in childhood and adulthood were observed. Conclusion Our findings suggest robust but subtle alterations across different age-groups among ADHD, ASD, and OCD. ADHD-specific ICV and hippocampal alterations in children and adolescents, and ASD-specific cortical thickness alterations in the frontal cortex in adults support previous work emphasizing neurodevelopmental alterations in these disorders

    Evidence for similar structural brain anomalies in youth and adult attention-deficit/hyperactivity disorder: a machine learning analysis

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    Attention-deficit/hyperactivity disorder (ADHD) affects 5% of children world-wide. Of these, two-thirds continue to have impairing symptoms of ADHD into adulthood. Although a large literature implicates structural brain differences of the disorder, it is not clear if adults with ADHD have similar neuroanatomical differences as those seen in children with recent reports from the large ENIGMA-ADHD consortium finding structural differences for children but not for adults. This paper uses deep learning neural network classification models to determine if there are neuroanatomical changes in the brains of children with ADHD that are also observed for adult ADHD, and vice versa. We found that structural MRI data can significantly separate ADHD from control participants for both children and adults. Consistent with the prior reports from ENIGMA-ADHD, prediction performance and effect sizes were better for the child than the adult samples. The model trained on adult samples significantly predicted ADHD in the child sample, suggesting that our model learned anatomical features that are common to ADHD in childhood and adulthood. These results support the continuity of ADHD’s brain differences from childhood to adulthood. In addition, our work demonstrates a novel use of neural network classification models to test hypotheses about developmental continuity.publishedVersio

    Anales de EdafologĂ­a y AgrobiologĂ­a Tomo 40 NĂșmero 3-4

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    Suelos. Mineralogenesis de arcillas de suelos forestales del Centro-oeste de España. 11. Sierra de Francia, por MÂȘ A. Vicente HernĂĄndez y M. SĂĄnchez Camazano.-- Suelos podsĂłlicos y podsoles de la sierra de Urbasa. l. MorfologĂ­a y datos analiticos, por Rosa Mana Val Legaz y Jaime Iñiguez Herrero.-- Suelos podsĂłlicos y podsoles de la sierra de Urbasa. II. MineralogĂ­a de arcillas, micromorfologĂ­a y genesis, por Rosa MarĂ­a Val Legaz y Jaime Iñiguez Herrero.-- Consideraciones acerca de la acidificaciĂłn de los suelos de la zona hĂșmeda española a travĂ©s de la vegetaciĂłn, por R.M. Calvo de Anta y F. DĂ­az Fierros Viqueira.-- Suelos del valle de Ulzama (Navarra). Ultisoles. I MorfologĂ­a, propiedades quĂ­micas y clasificaciĂłn, por Elisa Barragan y Jaime Iñiguez.--Palexerolls de la provincia de Murcia, por L. J. Alias y C. PĂ©rez Sirvent.-- Estudio de algunos calcixerolls de la provincia de Albacete, por L. J. Alias y C. PĂ©rez Sirvent.-- AplicaciĂłn de los modelos de Gouy-Chapman y Stem a suelos con carga va- riable. Andosuelos, por Jaime Iñiguez Herrero y Rosa MarĂ­a Val Legaz.-- Nematodos encontrados en los suelos de la provincia de Guadalajara, por MÂȘ Cristina Zancada y A. BellO.-- MineralogĂ­a de la fracciĂłn arcilla en suelos de las sierras de Gredas y Gata. III. Grupo SpodosolOstalf, por M. T. GarcĂ­a-GonzĂĄlez, J. GarcĂ­a Vicente y M.P. Riesco.-- MineralogĂ­a de la fracciĂłn arcilla en suelos de las sierras de Gredas y Gata. IV. Grupo Spodosol Orthod, por M. T. GarcĂ­a-GonzĂĄlez, l. GarcĂ­a Vicente y M.P. Riesco.-- Fertilidad de Suelos.-- Interferencias producidas por el Cl2 Ba-Tea en la determinaciĂłn conjunta de sodio y potasio, por fotometrĂ­a de Llama, por RamĂłn Madrid Vicente y AsunciĂłn Roig Garcra FerrĂĄndez.-- Fraccionamiento de Boro en suelos calizos, mediante un sistema de electroultrafiltraciĂłn (EUF), por A. GĂĄrate, C. CadahĂ­a y O. Carpena.-- AcciĂłn de los insecticidas: Diazinon, Fention y Carbofuran sobre el "Nematodo de los dtricos" Tylenchulus Semipenetrans Cobb, 1913, por Elisa Valcarce.-- Susceptibilidad de las larvas del "Nematodo de los cĂ­tricos" Tylenchulus semipenetrans Cobb, 1913, a los herbicidas Limiron y Dapalon, por Elisa Valcarcel.-- Influencia del carbonato y contenido de arcilla sobre la relaciĂłn Q/1 del P en suelos, por B. Eleizalde.-- AdsorciĂłn de fosfato en suelos calizos. l. Ajuste a distintas Isotermas: Parametros de adsorciĂłn, por M.C. Bolarin, F. Santa Cruz, F.G. FernĂĄndez y M. Romero.-- AdsorciĂłn de fosfato en suelos calizos. II. Correlaciones entre parametros de adsorciĂłn y algunas caracterĂ­sticas del suelo, por F. Santa Cruz, M.C. Bolarin, M. Caro y M. Romero.-- Evoluciones, durante las etapas de la floraciĂłn primaveral, del fĂłsforo de diferentes fracciones orgĂĄnicas en flores de Citrus limonum fisiologicamente normales, por MÂȘ Parra y A. Ortuño.-- Estudio de las evoluciones del fĂłsforo de diferentes fracciones en flor de me- locotonero Jeronimo II, durante las distintas etapas de la floraciĂłn, por MÂȘ Parra.-- Simultaneous measurement of C02 and 0 2 evolution in plant respirometry, por A. J. SĂĄnchez-Raya, M. GĂłmez y A. Leal.-- Estudio de algunos de los factores nutricionales que modifican la calidad de la proteĂ­na en el grano de trigo. l. Influencia de la cantidad de fertilizaciĂłn nitrogenada aplicada en cobertera y de la variedad empleada, por Luis Recalde Manrique y Julio LĂłpez GorgĂ©.-- Estudio de algunos de los factores nutricionales que modifican la cantidad de la proteĂ­na en el grano de trigo. II. InteracciĂłn entre la fertilizaciĂłn nitrogenada aplicada en cobertera y las aplicaciones de azufre elemental por vĂ­a foliar, por Luis Recalde Manrique y Julio LĂłpez GorgĂ©. Injerto en Hipocotilo de plĂĄntulas de castaño, por MÂȘ Luisa Vieitez y Ana MÂȘ Vieltez.-- 647 Efecto espeCÍfico de cloruros sobre la nutriciĂłn nitrogenada de plantas jovenes de tomate por Francisco GarcĂ­a-Garda y Angel de Luque Escalona.-- Estudio de la fertilizaciĂłn diferenciada en la vid. I. EvoluciĂłn del nitrogeno total, nitrogeno proteico, aminoacidos libres y prolina, por L. Catalina, R. Sarmiento, R. Romero, V. Valpuesta y C. Mazuelos.-- PredicciĂłn de temperaturas medias diarias, por MarĂ­a Dolores MenĂ©ndez Furones.-- Notas.-- BibliografĂ­aPeer reviewe
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