The role of rigidity in adaptive and maladaptive families assessed by FACES IV: the points of view of adolescents

Previous studies using Olson’s Circumplex Model and FACES IV, the self-report assessing family functioning, did not clarify the role of rigidity, a dimension of this model. Rigidity emerged as ambiguous: it was considered either as a functional or as a dysfunctional dimension. Building upon the results of previous studies, we provided a contribution intended to disambiguate the role of rigidity considering adolescents’ perceptions and using a non-a priori classification analysis. 320 Italian adolescents (13–21 years) participated in this study and responded to a questionnaire containing scales of the study variables. A latent class analysis was performed to identify the association of rigidity with the other dimensions of Olson’s model and with indicators of adaptive family functioning in adolescence: parental monitoring and family satisfaction. We found six clusters corresponding to family typologies and having different levels of functioning. Rigidity emerged as adaptive in the typologies named rigidly balanced and flexibly oscillating; it was associated with positive dimensions of family functioning, i.e. flexibility, cohesion, parental monitoring, and high levels of family satisfaction. Differently, when rigidity was associated with disengagement, low cohesion and flexibility, and lack of parental supervision, emerged as maladaptive. This was the case of two typologies: the rigidly disengaged and the chaotically disengaged. Adolescents of these families reported the lowest levels of satisfaction. In the two last typologies, the flexibly chaotic and the cohesively disorganized, rigidity indicated a mid-range functionality as these families were characterized by emotional connectedness but lack of containment. Clinical implications are discussed

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population

The c.G4883C variant in the leucine-rich repeat kinase 2 (LRRK2) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson's disease in the Han Chinese population (after the Gly2385Arg variant). In this paper, we analyze the Arg1628Pro variant and the associated haplotype in a large sample of 1,337 Han subjects (834 patients and 543 controls) ascertained from a single referral center in Taiwan. In our sample, the Arg1628Pro allele was more frequent among patients (3.8%) than among controls (1.8%; p = 0.004, OR 2.13, 95% CI 1.29-3.52). Sixty heterozygous and two homozygous carriers of the Arg1628Pro variant were identified among the patients, of which only one was also a carrier of the LRRK2 Gly2385Arg variant. We also show that carriers of the Arg1628Pro variant share a common, extended haplotype, suggesting a founder effect. Parkinson's disease onset age was similar in patients who carried the Arg1628Pro variant and in those who did not carry it. Our data support the contention that the Arg1628Pro variant is a second risk factor for Parkinson's disease in the Han Chinese population. Adding the estimated effects of Arg1628Pro (population attributable risk [PAR] ∼4%) and Gly2385Arg variants (PAR ∼6%) yields a total PAR of ∼10%

Method for Quantitative Study of Airway Functional Microanatomy Using Micro-Optical Coherence Tomography

We demonstrate the use of a high resolution form of optical coherence tomography, termed micro-OCT (μOCT), for investigating the functional microanatomy of airway epithelia. μOCT captures several key parameters governing the function of the airway surface (airway surface liquid depth, periciliary liquid depth, ciliary function including beat frequency, and mucociliary transport rate) from the same series of images and without exogenous particles or labels, enabling non-invasive study of dynamic phenomena. Additionally, the high resolution of μOCT reveals distinguishable phases of the ciliary stroke pattern and glandular extrusion. Images and functional measurements from primary human bronchial epithelial cell cultures and excised tissue are presented and compared with measurements using existing gold standard methods. Active secretion from mucus glands in tissue, a key parameter of epithelial function, was also observed and quantified

Distribution of Corbicula fluminea (Müller, 1774) in the invaded range: a geographic approach with notes on species traits variability

Corbicula fluminea is considered one of the most important non-native invasive species (NIS) in aquatic systems mainly due to its widespread distribution and ecological and economic impacts. This species is known to negatively affect native bivalves, also with severe effects on biodiversity and ecosystem functioning. Throughout an exhaustive bibliographic survey and with the aid of Geographic Information Systems tools, this study tracks the species dispersion from its native range, including the description of important physical and environmental barriers. Additional analyses were conducted to examine possible influences of latitudinal/ temperature gradients on important traits (e.g. life span, maximum and mean body length, growth at the end of first year). Altitude and winter minimum temperature appear to be delaying the invasion worldwide, but it seems inevitable that the species will spread across the globe. Latitude and summer temperature show a relationship with growth and life span. Overall, the information gathered in this review may be relevant to forecast future distribution patterns of this NIS, and to anticipate the possible implementation of effective management measures. Moreover, it may constitute a valuabletool inthe prediction of population responses to an increasingly changing environment.This research was supported by FCT (Portuguese Foundation for Science and Technology), through a PhD grant attributed to D. Crespo (SFRH/BD/80252/2011), a post-doc grant attributed to S. Leston (SFRH/BPD/91828/2012) and M Dolbeth (SFRH/BPD/41117/2007) and BIOCHANGED project (PTDC/MAR/111901/2009), subsidized by the European Social Fund and MCTES (Ministério da Ciência, Tecnologia e Ensino Superior) National Funds, through the POPH (Human Potential Operational Programme), QREN (National Strategic Reference Framework) and COMPETE (Programa Operacional Factores de Competitividade).info:eu-repo/semantics/publishedVersio

Depression as a Risk Factor for the Initial Presentation of Twelve Cardiac, Cerebrovascular, and Peripheral Arterial Diseases: Data Linkage Study of 1.9 Million Women and Men

BACKGROUND: Depression is associated with coronary heart disease and stroke, but associations with a range of pathologically diverse cardiovascular diseases are not well understood. We examine the risk of 12 cardiovascular diseases according to depression status (history or new onset). METHODS: Cohort study of 1,937,360 adult men and women, free from cardiovascular disease at baseline, using linked UK electronic health records between 1997 and 2010. The exposures were new-onset depression (a new GP diagnosis of depression and/or prescription for antidepressants during a one-year baseline), and history of GP-diagnosed depression before baseline. The primary endpoint was initial presentation of 12 cardiovascular diseases after baseline. We used disease-specific Cox proportional hazards models with multiple imputation adjusting for cardiovascular risk factors (age, sex, socioeconomic status, smoking, blood pressure, diabetes, cholesterol). RESULTS: Over a median [IQR] 6.9 [2.1-10.5] years of follow-up, 18.9% had a history of depression and 94,432 incident cardiovascular events occurred. After adjustment for cardiovascular risk factors, history of depression was associated with: stable angina (Hazard Ratio = 1.38, 95%CI 1.32-1.45), unstable angina (1.70, 1.60-1.82), myocardial infarction (1.21, 1.16-1.27), unheralded coronary death (1.23, 1.14-1.32), heart failure (1.18, 1.13-1.24), cardiac arrest (1.14, 1.03-1.26), transient ischemic attack (1.31, 1.25-1.38), ischemic stroke (1.26, 1.18-1.34), subarachnoid haemorrhage (1.17, 1.01-1.35), intracerebral haemorrhage (1.30, 1.17-1.45), peripheral arterial disease (1.24, 1.18-1.30), and abdominal aortic aneurysm (1.12,1.01-1.24). New onset depression developed in 2.9% of people, among whom 63,761 cardiovascular events occurred. New onset depression was similarly associated with each of the 12 diseases, with no evidence of stronger associations compared to history of depression. The strength of association between depression and these cardiovascular diseases did not differ between women and men. CONCLUSION: Depression was prospectively associated with cardiac, cerebrovascular, and peripheral diseases, with no evidence of disease specificity. Further research is needed in understanding the specific pathophysiology of heart and vascular disease triggered by depression in healthy populations

Delinquência juvenil: relações entre desenvolvimento, funções executivas e comportamento social na adolescência

Funções Executivas (FEs) são processos mentais de ordem superior, necessários para o controle emocional, cognitivo e comportamental. A adolescência é uma etapa crucial para o desenvolvimento das FEs. Defasagens/Déficits nas funções dificultam/impossibilitam comportamentos sociais adequados e aumentam o risco para problemas de comportamento (dentre os quais a prática de delitos). O objetivo deste artigo é apresentar os resultados de uma revisão integrativa do conhecimento científico produzido em torno das relações entre FEs e comportamento delituoso na adolescência e discutir as implicações disso para programas de prevenção e tratamento/acompanhamento socioeducativo. A literatura aponta que as FEs podem se relacionar com o comportamento delituoso de forma indireta e direta. Indiretamente, disfunções executivas contribuem para a existência de dificuldades de ajustamento ao meio acadêmico e laboral, aumentando as chances de o adolescente se afastar dessas instituições sociais, de regulação da conduta, e se envolver com práticas divergentes. Diretamente, disfunções executivas, especialmente no plano do controle de impulsos, contribuem para a emissão de delitos específicos e para a violência. A literatura indica que as FEs podem ser estimuladas e desenvolvidas. Ações preventivas podem ser implementadas desde os primeiros meses de vida até à adolescência, no âmbito da família e da escola. Ações de tratamento devem focalizar as FEs mais diretamente relacionadas aos problemas manifestos e levar em consideração fatores contraproducentes ao desenvolvimento das FEs, como o estresse, o isolamento social/emocional e a saúde como um todo. Salienta-se que é necessário integrar esses conhecimentos às legislações e políticas públicas brasileiras

Patrones de conductas delictivas y socialización en adolescentes escolares en Brasil

Juvenile delinquency in Brazil promotes concern - especially the acts committed by young with more serious (violent) and persistent criminal conduct patterns, which are associated with specific personality traits. The objective of this study is to compare levels of criminal conduct among Brazilian schoolars, grouped according to aspects of socialization personality, from a group of 467 male adolescents. Three clusters are identified from the scores in Agreeableness (S1), Prosociality (S2) and Trustiness (S3). Knowing that the highest scores suggest the greatest social adaptation, Cluster 1, “Low Trustiness” (C1; n = 134) presents the lowest means in Prosociability, besides the lowest means in Trustiness and the greatest means in criminal conducts. The Clúster 2, “High Socialization” (C1; n = 185) presents the best indicators of social adaptation, which is reflected in fewer self-reported criminal behavior. Finally, Clúster 3, “Low Agreeableness” (C3; n = 148), presents a history of conducts similar to the “High Socialization” Clúster, but with the presence of a subgroup with greater self-reported delinquency. The results show variations in the sample studied, in socialization (psychological development), and in themanifestation of criminal conducts.La delincuencia juvenil en Brasil genera preocupación –sobre todo los actos cometidos por jóvenes con patrones deconducta delictivas más graves (violentas) y persistentes, las cualesse asocian a rasgos de personalidad específicos. El objetivo de este estudio es comparar niveles de conducta delictiva en adolescentesescolares brasileños, agrupados según los aspectos depersonalidad de socialización, desde una muestra de 467 adolescentes varones. Se identifican tres clústeres desde las puntuaciones en Amabilidad (S1), Prosocialidad (S2) y Confianza (S3). Sabiendo que las puntuaciones más elevadas sugieren mayor adaptación social, el Clúster 1, “Baja Confianza” (C1; n=134), presenta los promedios más bajos en Prosocialidad, además del más bajo promedio en Confianza y de los mayores promedios en conductas delictivas. El Clúster 2, “Alta Socialización” (C1; n=185) presenta los mejores indicadores de adaptación social, lo que se refleja en menos auto informes de conductas delictivas. Finalmente,el Clúster 3, “Baja Amabilidad” (C3; n=148), presenta un historial de conducta semejante al clúster “Alta Socialización”, pero con algunos indicios de subgrupo con mayor implicación en conductas delictivas. Los resultados denotan variaciones en la muestra estudiada, en las ocialización (desarrollo psicológico), y en la manifestación de conductas delictivas

Genome-wide association and functional follow-up reveals new loci for kidney function

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD

Genome-wide analysis identifies 12 loci influencing human reproductive behavior.

The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits

Ancient Borrelia genomes document the evolutionary history of louse-borne relapsing fever

Several bacterial pathogens have transitioned from tick-borne to louse-borne transmission, which often involves genome reduction and increasing virulence. However, the timing of such transitions remains unclear. We sequenced four ancient Borrelia recurrentis genomes, the agent of louse-borne relapsing fever, dating from 2300 to 600 years ago. We estimated the divergence from its closest tick-borne relative to 6000 to 4000 years ago, which suggests an emergence coinciding with human lifestyle changes such as the advent of wool-based textiles. Pan-genome analysis indicated that much of the evolution characteristic of B. recurrentis had occurred by ~2300 years ago, though further gene turnover, particularly in plasmid partitioning, persisted until ~1000 years ago. Our findings provide a direct genomic chronology of the evolution of this specialized vector-borne pathogen