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PURPOSE: The prevalence of myopia in Scandinavia tends to be lower than in other parts of the world. This study aimed to investigate the incidence of myopia and its predictors in Swedish children to characterise this trend. METHODS: A 2-year longitudinal study was conducted following a cohort of schoolchildren aged 8-16 years. Myopia was defined as a spherical equivalent refraction (SER) ≤ -0.50 D. The study enrolled 128 participants, 70 (55%) females with a mean age of 12.0 years (SD = 2.4). RESULTS: The cumulative incidence of myopia during the follow-up period was 5.5%, and the incidence rate of myopia was 3.2 cases per 100 person-years. Participants with myopia at baseline exhibited a faster increase in refractive error during the follow-up period. Likewise, participants with two myopic parents exhibited a more marked change towards myopia, regardless of their initial refractive error. CONCLUSION: In the current study, similar to prevalence, the incidence of myopia was low when compared with other parts of the world. These results lead us to formulate a new hypothesis that the normal emmetropisation process may be protected by low educational pressure practised in Sweden during early childhood. Further research is necessary to test this new hypothesis.
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Miopía , Refracción Ocular , Humanos , Suecia/epidemiología , Femenino , Miopía/epidemiología , Miopía/fisiopatología , Niño , Masculino , Incidencia , Adolescente , Refracción Ocular/fisiología , Prevalencia , Estudios Longitudinales , Estudios de SeguimientoRESUMEN
AIM: To determine the regional and ethnic differences in ocular axial elongation and refractive error progression in myopic and non-myopic children. METHODS: A retrospective analysis of 15 longitudinal clinical and population-based studies was conducted in the UK, Sweden, Australia (classified as European), China, and Vietnam (classified as East Asian) between 2005 and 2021. A total of 14,593 data points from 6208 participants aged 6-16 years with spherical equivalent from +6 to -6 D were analysed. Progression was annualised from longitudinal axial length and cycloplegic spherical equivalent (SE) refraction. Generalised estimating equation models including main effects and interactions were used for model building. Age and region-specific estimates for myopes and non-myopes and confidence intervals are reported. RESULTS: Factors affecting axial elongation and SE progression in children included being myopic, followed by age, region/ethnicity and sex. The magnitude of regional/ethnic differences was dependent on myopia and age. Axial elongation and SE progression were lower in European compared with East Asian children, but differences were reduced with increasing age and differences in axial elongation were larger in myopes than non-myopes. Age-specific regional/ethnic differences indicated that axial elongation for a 6-year-old East Asian myopic child was greater than a European child by 0.15 mm/year (0.58 vs. 0.43 mm/year) and by 0.09 mm/year (0.35 vs. 0.26 mm/year) for a 10-year-old myope. SE progression was lower in a 6-year-old European myope by 0.48 D/year and at 10 years of age by 0.34 D/year compared with an East Asian myope. CONCLUSIONS: There are regional/ethnic differences in age-specific refractive and axial growth patterns in both myopic and non-myopic eyes, with more marked differences in younger East Asian children who demonstrated a higher axial growth and greater negative SE shift than their non-Asian peers. Regional/ethnic differences in progression reflect environmental and ethnic variations. Age and region/ethnicity-specific estimates could contribute as a reference for future comparisons.
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The Ruminative Response Scale for Eating Disorders (RRS-ED) measures ruminative thought content specifically related to eating disordered themes, assessing two domains of rumination, brooding and reflection. This study aims to examine the factor structure of the RRS-ED in a Portuguese community sample, using correlated two-factor models, unifactorial and bifactor models and test for invariance across sex. A sample of 535 adults (179 male; 356 female) filled out the RRS-ED. A subsample (n=347) answered additional measures of repetitive negative thinking and eating psychopathology. The bifactor model of the RRS-ED provided the best fit, demonstrating a reliable general rumination factor. Also, the bifactor model of the RRS-ED was invariant across sex. RRS-ED showed moderate to strong correlations with negative perseverative thinking and eating psychopathology. Both domain-specific factors of RRS-ED were associated with higher levels of eating psychopathology. Findings indicate that RRS-ED is a reliable and valid measure to assess the ruminative response from the general population in Portugal, showing initial evidence that supports the use of a total score of RRS-ED as an overall measure of rumination, while specific factor scores should be reported with caution. Future studies are needed to replicate the findings and further corroborate the unidimensionality of the RRS-ED.
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Depresión , Trastornos de Alimentación y de la Ingestión de Alimentos , Adulto , Humanos , Masculino , Femenino , Portugal , Psicometría , Pensamiento/fisiología , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnósticoRESUMEN
Endoplasmic reticulum (ER) stress and mitochondrial dysfunction, which are key events in the initiation and/or progression of several diseases, are correlated with alterations at ER-mitochondria contact sites, the so-called "Mitochondria-Associated Membranes" (MAMs). These intracellular structures are also implicated in NLRP3 inflammasome activation which is an important driver of sterile inflammation, however, the underlying molecular basis remains unclear. This work aimed to investigate the role of ER-mitochondria communication during ER stress-induced NLRP3 inflammasome activation in both peripheral and central innate immune systems, by using THP-1 human monocytes and BV2 microglia cells, respectively, as in vitro models. Markers of ER stress, mitochondrial dynamics and mass, as well as NLRP3 inflammasome activation were evaluated by Western Blot, IL-1ß secretion was measured by ELISA, and ER-mitochondria contacts were quantified by transmission electron microscopy. Mitochondrial Ca2+ uptake and polarization were analyzed with fluorescent probes, and measurement of aconitase and SOD2 activities monitored mitochondrial ROS accumulation. ER stress was demonstrated to activate the NLRP3 inflammasome in both peripheral and central immune cells. Studies in monocytes indicate that ER stress-induced NLRP3 inflammasome activation occurs by a Ca2+-dependent and ROS-independent mechanism, which is coupled with upregulation of MAMs-resident chaperones, closer ER-mitochondria contacts, as well as mitochondrial depolarization and impaired dynamics. Moreover, enhanced ER stress-induced NLRP3 inflammasome activation in the immune system was found associated with pathological conditions since it was observed in monocytes derived from bipolar disorder (BD) patients, supporting a pro-inflammatory status in BD. In conclusion, by demonstrating that ER-mitochondria communication plays a key role in the response of the innate immune cells to ER stress, this work contributes to elucidate the molecular mechanisms underlying NLRP3 inflammasome activation under stress conditions, and to disclose novel potential therapeutic targets for diseases associated with sterile inflammation.
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Inflamasomas , Proteína con Dominio Pirina 3 de la Familia NLR , Estrés del Retículo Endoplásmico , Humanos , Sistema Inmunológico , MitocondriasRESUMEN
A generalized pathway model, with time-dependent parameters, is applied to describe the mortality curves of the COVID-19 disease for several countries that exhibit multiple waves of infections. The pathway approach adopted here is formulated explicitly in time, in the sense that the model's growth rate for the number of deaths or infections is written as an explicit function of time, rather than in terms of the cumulative quantity itself. This allows for a direct fit of the model to daily data (new deaths or new cases) without the need of any integration. The model is applied to COVID-19 mortality curves for ten selected countries and found to be in very good agreement with the data for all cases considered. From the fitted theoretical curves for a given location, relevant epidemiological information can be extracted, such as the starting and peak dates for each successive wave. It is argued that obtaining reliable estimates for such characteristic points is important for studying the effectiveness of interventions and the possible negative impact of their relaxation, as it allows for a direct comparison of the time of adoption/relaxation of control measures with the peaks and troughs of the epidemic curve.
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We present the software ModInterv as an informatics tool to monitor, in an automated and user-friendly manner, the evolution and trend of COVID-19 epidemic curves, both for cases and deaths. The ModInterv software uses parametric generalized growth models, together with LOWESS regression analysis, to fit epidemic curves with multiple waves of infections for countries around the world as well as for states and cities in Brazil and the USA. The software automatically accesses publicly available COVID-19 databases maintained by the Johns Hopkins University (for countries as well as states and cities in the USA) and the Federal University of Viçosa (for states and cities in Brazil). The richness of the implemented models lies in the possibility of quantitatively and reliably detecting the distinct acceleration regimes of the disease. We describe the backend structure of software as well as its practical use. The software helps the user not only to understand the current stage of the epidemic in a chosen location but also to make short term predictions as to how the curves may evolve. The app is freely available on the internet (http://fisica.ufpr.br/modinterv), thus making a sophisticated mathematical analysis of epidemic data readily accessible to any interested user.
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We offer a new perspective on the problem of characterizing mesoscopic fluctuations in the interplateau regions of the integer quantum Hall transition. We found that longitudinal and transverse conductance fluctuations, generated by varying the external magnetic field within a microscopic model, are multifractal and lead to distributions of conductance increments (magnetoconductance) with heavy tails (intermittency) and signatures of a hierarchical structure (cascade) in the corresponding stochastic process, akin to Kolmogorov's theory of fluid turbulence. We confirm this picture by interpreting the stochastic process of the conductance increments in the framework of H theory, which is a continuous-time stochastic approach that incorporates the basic features of Kolmogorov's theory. The multifractal analysis of the conductance "time series," combined with the H-theory formalism, provides strong support for the overall characterization of mesoscopic fluctuations in the quantum Hall transition as a multifractal stochastic phenomenon with multiscale hierarchy, intermittency, and cascade effects.
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BACKGROUND: The EQ-5D index often fails to detect the effect of ophthalmic diseases and sight loss. Investigating predictors of individual EQ-5D health dimensions might reveal the underlying reasons. The aim of this study was to investigate predictors of health dimension ratings obtained with the EQ-5D-3L from participants with impaired vision representing a spectrum of eye diseases. METHODS: Observational cross-sectional study with participants recruited at four public hospitals in Portugal. Outpatients with visual acuity of 0.30 logMAR(6/12) or worse in the better-seeing eye were invited to participate. Participants completed two instruments: the EQ-5D-3L (measures participants' perceived health-related quality-of-life) and the Massof Activity Inventory (measures visual ability-ability to perform vision-related activities). This study used logistic regression models to identify factors associated with responses to the EQ-5D-3L. RESULTS: The study included 492 participants, mean age 63.4 years (range = 18-93), 50% females. The most common diagnosis was diabetic retinopathy (37%). The mean visual acuity in the better seeing eye was 0.65 logMAR (SD = 0.48) and the mean visual ability was 0.62 logits (SD = 2.04), the correlation between the two was r = - 0.511 (p < 0.001). Mobility and self-care were the health dimensions with the fewest problems (1% reported extreme problems), anxiety and depression the dimension with the most problems (24% reported extreme problems). ROC curve analysis showed that the EQ-5D index was a poor predictor of cases of vision impairment whilst visual ability given was a good predictor of cases of vision impairment. Visual ability was an independent predictor of the response for all dimensions, higher ability was always associated with a reduced odds of reporting problems. The odds of reporting problems were increased for females in 3 out of 5 dimensions. Comorbidities, visual acuity and age-category were predictors of the odds of reporting problems for one dimension each. CONCLUSIONS: The odds of reporting problems for the five health dimensions of the EQ-5D-3L were strongly influenced by the ability to perform vision-related activities (visual ability). The EQ-5D index showed poor performance at detecting vision impairment. These findings are informative and relevant for the clinic and for research evaluating the impact of eye diseases and disease treatments in ophthalmology.
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Estado de Salud , Calidad de Vida , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Portugal/epidemiología , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Premenstrual dysphoric disorder (PMDD) affects 1.2 to 5% of women of reproductive age. Besides significant suffering and social, occupational, and interpersonal impairment, it has been suggested that this syndrome is associated with other affective disorders, in different reproductive phases, such as pregnancy and the postpartum period. However, the literature on this association is scarce and presents great variability in terms of adopted methodology and mixed results. To analyze the relationship between PMDD and other affective disorders, aiming to contribute to the clarification of whether PMDD can be considered a risk factor for perinatal depression (PND). Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we conducted a comprehensive literature search in PubMed, EMBASE, CINAHL, PsycINFO databases. Seven original studies were included. Only one study linked PMDD with depression during pregnancy, with evidence of a positive association between PMDD and PND. This and five other studies show a positive relationship between PMDD and postpartum depression (PPD), assessed in periods ranging from 2 to 4 days to 1 year after birth. Only one study found no significant association between PMDD and PPD, assessed at 4 weeks postpartum. There seems to be a positive and significant association between PMDD and the development of perinatal depression, particularly postpartum depression. This review supports the relevance of health professionals systematically evaluating the presence of premenstrual dysphoric disorder, when monitoring women throughout the perinatal period.
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Depresión Posparto , Trastorno Depresivo , Trastorno Disfórico Premenstrual , Síndrome Premenstrual , Depresión , Depresión Posparto/diagnóstico , Depresión Posparto/epidemiología , Depresión Posparto/psicología , Femenino , Humanos , Periodo Posparto , Embarazo , Trastorno Disfórico Premenstrual/epidemiología , Trastorno Disfórico Premenstrual/psicología , Síndrome Premenstrual/epidemiología , Síndrome Premenstrual/psicologíaRESUMEN
PURPOSE: Markers for the relationships between structural and microvasculature measures given by optical coherence tomography angiography are necessary to increase the diagnostic and prognostic value of this technique. The aim of this study was to investigate relationships between structural and microvasculature measures around the fovea in healthy eyes of healthy children. METHODS: Observational cross-sectional study involving children aged 8-17 years, born at full-term, with no eye disease. The better of two 3 × 3 mm macular scans obtained with a Cirrus 5000HD-OCT was analysed. Images were corrected for lateral magnification errors. Vessel density and perfusion were measured with ImageJ/Fiji software for the superficial capillary plexus. Structural measures including foveal and macular thicknesses were performed manually. RESULTS: The sample included 86 participants, 51 (59%) females. Mean age was 12.4 years (SD = 2.5); mean best-corrected acuity was -0.10 logMAR (SD = 0.09); mean refractive error was +0.59 D (SD = 1.3) and mean axial length was 23.1 mm (SD = 0.86). Mean area of the foveal avascular zone (AFAZ) was 0.20 mm2 (SD = 0.88); median fovea-to-macula thickness ratio (FMTR) was 0.63 (IQR = 0.08); mean central vessel density was 12.42 mm-1 (SD = 2.78) and mean central perfusion was 38.66% (SD = 3.83). AFAZ was correlated with central vessel density (p < 0.001), perfusion (p < 0.001), foveal thickness (p < 0.001) and FMTR (p < 0.001). Central vessel density was correlated with foveal thickness (p < 0.001) and FMTR, (p = 0.01). Central perfusion was correlated with foveal thickness (p < 0.001) and FMTR, (p = 0.003). CONCLUSION: In this study, foveal thickness, FMTR and foveal microvasculature measurements were correlated. Clinicians need to be aware that shallow foveal pits and persistent foveal microvasculature are likely to occur in optical coherence tomography angiography images. In healthy eyes from healthy children, an atypical high FMTR and a small AFAZ may be associated with incomplete foveal development. The mechanism and functional implications of this remain unknown.
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Fóvea Central , Vasos Retinianos , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Angiografía con Fluoresceína/métodos , Fondo de Ojo , Humanos , Microvasos/diagnóstico por imagen , Vasos Retinianos/diagnóstico por imagen , Tomografía de Coherencia Óptica/métodos , Agudeza VisualRESUMEN
Psychological reactions to pandemics and their constraints depend heavily on personality. Although perfectionism is consistently associated to depression, anxiety and stress, its role in the pandemics' psychological impact has not been yet empirically studied. Our aim was to analyze the role of perfectionism in psychological distress during the pandemic of COVID-19, testing whether it is mediated by fear of COVID-19 and repetitive negative thinking/RNT. Participants (N = 413 adults; 269.2% women) were recruited from September until December 2020, via social networks. They completed self-report validated questionnaires to evaluate perfectionism dimensions (self-critical, rigid and narcissistic perfectionism), fear of COVID-19, RNT and psychological distress (sum of anxiety, depression and stress symptoms). As women had significantly higher levels of self-critical perfectionism, RNT, fear of COVID-19 and psychological distress, gender was controlled in mediation analysis. The three perfectionism dimensions correlated with RNT, fear of COVID-19 and psychological distress. The effect of self-critical perfectionism on psychological distress was partially mediated by fear of COVID-19 and RNT whereas the effect of rigid and narcissistic perfectionism was fully mediated. Perfectionism influences emotional and cognitive responses to the COVID-19 and therefore should be considered both in the prevention and psychological consequences of the pandemic.
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Mass spectrometry (MS)-based techniques can be a powerful tool to identify neuropsychiatric disorder biomarkers, improving prediction and diagnosis ability. Here, we evaluate the efficacy of MS proteomics applied to human peripheral fluids of schizophrenia (SCZ) patients to identify disease biomarkers and relevant networks of biological pathways. Following PRISMA guidelines, a search was performed for studies that used MS proteomics approaches to identify proteomic differences between SCZ patients and healthy control groups (PROSPERO database: CRD42021274183). Nineteen articles fulfilled the inclusion criteria, allowing the identification of 217 differentially expressed proteins. Gene ontology analysis identified lipid metabolism, complement and coagulation cascades, and immune response as the main enriched biological pathways. Meta-analysis results suggest the upregulation of FCN3 and downregulation of APO1, APOA2, APOC1, and APOC3 in SCZ patients. Despite the proven ability of MS proteomics to characterize SCZ, several confounding factors contribute to the heterogeneity of the findings. In the future, we encourage the scientific community to perform studies with more extensive sampling and validation cohorts, integrating omics with bioinformatics tools to provide additional comprehension of differentially expressed proteins. The produced information could harbor potential proteomic biomarkers of SCZ, contributing to individualized prognosis and stratification strategies, besides aiding in the differential diagnosis.
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Proteómica , Esquizofrenia , Biomarcadores/metabolismo , Biología Computacional , Humanos , Espectrometría de Masas , Proteómica/métodos , Esquizofrenia/metabolismoRESUMEN
Bipolar disorder (BD) is a clinically heterogeneous condition, presenting a complex underlying etiopathogenesis that is not sufficiently characterized. Without molecular biomarkers being used in the clinical environment, several large screen proteomics studies have been conducted to provide valuable molecular information. Mass spectrometry (MS)-based techniques can be a powerful tool for the identification of disease biomarkers, improving prediction and diagnosis ability. Here, we evaluate the efficacy of MS proteomics applied to human peripheral fluids to assess BD biomarkers and identify relevant networks of biological pathways. Following PRISMA guidelines, we searched for studies using MS proteomics to identify proteomic differences between BD patients and healthy controls (PROSPERO database: CRD42021264955). Fourteen articles fulfilled the inclusion criteria, allowing the identification of 266 differentially expressed proteins. Gene ontology analysis identified complement and coagulation cascades, lipid and cholesterol metabolism, and focal adhesion as the main enriched biological pathways. A meta-analysis was performed for apolipoproteins (A-I, C-III, and E); however, no significant differences were found. Although the proven ability of MS proteomics to characterize BD, there are several confounding factors contributing to the heterogeneity of the findings. In the future, we encourage the scientific community to use broader samples and validation cohorts, integrating omics with bioinformatics tools towards providing a comprehensive understanding of proteome alterations, seeking biomarkers of BD, and contributing to individualized prognosis and stratification strategies, besides aiding in the differential diagnosis.
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Trastorno Bipolar , Proteómica , Biomarcadores/metabolismo , Trastorno Bipolar/diagnóstico , Humanos , Espectrometría de Masas/métodos , Proteoma , Proteómica/métodosRESUMEN
INTRODUCTION: A challenging situation in proximal hypospadias is the presentation of patients with successful urethroplasty but with persistent or recurrent ventral curvature (VC) after multiple hypospadias repair. MATERIALS AND METHODS: We present a 13 year-old boy with 7 previous surgeries (long TIP, Duplay, meatoplasty) to treat hypospadias presenting with 60 degrees of VC, in spite of a well-accepted coronally neomeatus. We degloved the penis and artificial erection clearly appointed corporal disproportion causing curvature. We disconnected urethra from corpora. After excision of remnant fibrotic tissue, there was a residual curvature so a lenghtening corporoplasty with dermal graft from groin was performed. We have adjusted the urethral meatus position into a proximal penile shaft. We used a buccal mucosa graft placed in an inverted U-shape position planning a second stage urethroplasty (1). An indwelling silicone Foley tube was left for one week. The patient was discharged the day after surgery. RESULTS: The aspect after corporoplasty proved satisfactory curvature correction. Patient had an excellent outcome and is scheduled for a second-stage after 6 months. DISCUSSION: Snodgrass and Bush (2) reported that on 73 patients with an average of 2.7 operations for proximal shaft to perineal hypospadias; of which, 83% had VC at re-operation averaging 50°. We do believe that some good results with minimal dorsal plicature may recur in adolescence and therefore when these procedures may be considered, they should be performed by classic Nesbit technique (3). Otherwise, the choice for primary ventral lengthening should be taken. CONCLUSION: Severe curvature associated with hypospadias should undergo a major procedure at early stage to avoid decompensation after dorsal plicature in adolescence. We had a very satisfactory result, the patient awaits the second stage procedure (Figure-1).
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Hipospadias , Procedimientos de Cirugía Plástica , Adolescente , Humanos , Hipospadias/cirugía , Lactante , Masculino , Pene/cirugía , Procedimientos de Cirugía Plástica/métodos , Resultado del Tratamiento , Uretra/cirugía , Procedimientos Quirúrgicos Urológicos Masculinos/métodosRESUMEN
OBJECTIVES: High-risk bladder pattern can be defined by Urodynamic Evaluation (UE) as overactive bladder with detrusor leak point pressure higher than 40 cmH2O and/or higher filling pressures also above 40 cmH2O. We wanted to evaluate response to treatment in myelomeningocele patients operated in utero in this subgroup. PATIENTS AND METHODS: From our prospective cohort of in utero MMC we have identified patients in the high-risk group. Treatment consisted of anticholinergics (Oxybutynin 0.2 mg/Kg) 2 or 3 times daily in association with CIC. At every UE, patients were reclassified in high-risk or low-risk patterns. Patients not responding were proposed bladder reconstruction or diversion according to age. RESULTS: Between 2011 to 2020, we have been following 121 patients and 60 (49.6%) of them were initially categorized as high-risk. The initial UE was performed at a mean age of 7.9 months and detrusor overactivity was found in 83.3% (mean maximum pressure of 76.5cmH20). When evaluating patients with 2 or more UE, we identified 44 patients (follow-up: 36.8months). It was observed in the group of patients who underwent 2 to 5 UE, that response to treatment was validated by the finding of 40% of low-risk bladder patterns in the second UE and between 62% to 64% in the third to the fifth UE. The incidence of surgery was 13.3%. CONCLUSIONS: Early urological treatment of high-risk bladder pattern was effective in approximately 60%. We reinforce the need to correctly treat every patient with myelomeningocele, in accordance with UE, whether undergoing in utero or postnatal treatment.
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Meningomielocele , Vejiga Urinaria Neurogénica , Humanos , Lactante , Meningomielocele/complicaciones , Meningomielocele/cirugía , Estudios Prospectivos , Vejiga Urinaria/cirugía , Vejiga Urinaria Neurogénica/cirugía , UrodinámicaRESUMEN
Schizophrenia is a common, chronic and debilitating neuropsychiatric syndrome affecting tens of millions of individuals worldwide. While rare genetic variants play a role in the etiology of schizophrenia, most of the currently explained liability is within common variation, suggesting that variation predating the human diaspora out of Africa harbors a large fraction of the common variant attributable heritability. However, common variant association studies in schizophrenia have concentrated mainly on cohorts of European descent. We describe genome-wide association studies of 6152 cases and 3918 controls of admixed African ancestry, and of 1234 cases and 3090 controls of Latino ancestry, representing the largest such study in these populations to date. Combining results from the samples with African ancestry with summary statistics from the Psychiatric Genomics Consortium (PGC) study of schizophrenia yielded seven newly genome-wide significant loci, and we identified an additional eight loci by incorporating the results from samples with Latino ancestry. Leveraging population differences in patterns of linkage disequilibrium, we achieve improved fine-mapping resolution at 22 previously reported and 4 newly significant loci. Polygenic risk score profiling revealed improved prediction based on trans-ancestry meta-analysis results for admixed African (Nagelkerke's R2 = 0.032; liability R2 = 0.017; P < 10-52), Latino (Nagelkerke's R2 = 0.089; liability R2 = 0.021; P < 10-58), and European individuals (Nagelkerke's R2 = 0.089; liability R2 = 0.037; P < 10-113), further highlighting the advantages of incorporating data from diverse human populations.
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Población Negra/genética , Predisposición Genética a la Enfermedad/genética , Estudio de Asociación del Genoma Completo , Hispánicos o Latinos/genética , Esquizofrenia/genética , Femenino , Sitios Genéticos , Humanos , Masculino , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
OBJECTIVE: To investigate whether visual acuity has the same importance as a factor of depression and anxiety comparing with other psychological variables, particularly perceived social support, in patients diagnosed with age-related eye diseases, with and without low vision. DESIGN: Observational cross-sectional study. SETTING: Patients attending outpatient appointments at the department of ophthalmology of a general hospital in Portugal. SUBJECTS: Patients with age-related macular degeneration and patients with diabetic retinopathy attending routine hospital appointments were recruited for this study. MEASURES: Anxiety and depression were measured using the hospital anxiety and depression scale and perceived social support using the multidimensional scale of perceived social support. Visual acuity was measured with ETDRS charts. RESULTS: Of the 71 patients, 53 (75%) were diagnosed with diabetic retinopathy, 37 (52%) were female and age (mean ± SD) was 69 ± 12 years. Acuity in the better seeing eye was 0.41 ± 0.33 logMAR. The mean anxiety score was 4.38 ± 3.82 and depression 4.41 ± 3.39. Clinically significant levels of anxiety were found in 21% (n = 15) of the participants and depression in 18%(n = 13). The total social support score was 5.29 ± 0.61. Significant multivariate regression models were found for anxiety (R2 = 0.21, P = 0.016) and for depression (R2 = 0.32, P < 0.0001). Social support was independently associated with levels of anxiety and with levels of depression. Gender was independently associated with levels of anxiety. CONCLUSION: This study suggests that patients' perceived social support might be more important than visual acuity as a factor of clinical depression and anxiety in a sample of age-related eye disease patients.
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Diabetes Mellitus , Retinopatía Diabética , Degeneración Macular , Ansiedad , Estudios Transversales , Depresión/etiología , Femenino , Humanos , Degeneración Macular/complicaciones , Apoyo Social , Agudeza VisualRESUMEN
In this study, the Gasteruptiidae (Hymenoptera, Evanioidea) collected in three environments at the Department of Rocha, in Eastern Uruguay, were documented based on a survey carried out with Malaise traps between December 2014 and December 2016. During the samplings, four species of Gasteruption Latreille, 1796 were captured, being 14 females and three males of Gasteruption brachychaetun Schrottky, 1906; eight females and five males of Gasteruption brasiliense (Blanchard, 1840); one female of Gasteruption helenae Macedo, 2011 and one female of Gasteruption brandaoi Macedo, 2011. Gasteruption brachychaetun, G. helenae and G. brandaoi are recorded by the first time from Uruguay.
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Himenópteros , Animales , Femenino , Masculino , Manejo de Especímenes , Encuestas y Cuestionarios , UruguayRESUMEN
PURPOSE: In utero myelomeningocele closure is a valid alternative to postnatal repair with unclear benefits to bladder function. We compared bladder status in patients who underwent fetal myelomeningocele surgery versus postnatal repair. MATERIALS AND METHODS: We retrospectively reviewed our database, with group 1 consisting of in utero surgery and group 2 consisting of postnatal repair. Group 3 was a subgroup of group 2, including patients initially presenting at age less than 12 months. We recorded medical history, radiological investigation with renal ultrasonography, voiding cystourethrography, urodynamic evaluation and clinical outcome of the bladder pattern after treatment. RESULTS: We identified 88 patients in group 1, 86 in group 2 and 38 in group 3. The incidence of urinary tract infection was higher in the postnatal period (45% vs 20%). Hydronephrosis occurred in 20.7%, 22.6% and 28.9% of patients in groups 1, 2 and 3, respectively. Vesicoureteral reflux was diagnosed in 15% in all groups. Urodynamic data showed a higher prevalence of detrusor overactivity in group 1 and no difference in other urodynamic parameters. The high risk bladder pattern at initial evaluation occurred in 56%, 50% and 46% of patients in groups 1, 2 and 3, respectively. There was a trend to decrease the percentages of the high risk bladder pattern and to increase the normal pattern after treatment in all groups. CONCLUSIONS: In utero repair did not improve urological parameters compared to repair in the postnatal period.
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Feto/cirugía , Meningomielocele/cirugía , Complicaciones Posoperatorias/epidemiología , Femenino , Humanos , Hidronefrosis/epidemiología , Lactante , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Infecciones Urinarias/epidemiología , Reflujo Vesicoureteral/epidemiologíaRESUMEN
OBJECTIVES: The aim of this study was to analyze the outcomes of children with Diamond-Blackfan anemia (DBA) treated in Brazil with hematopoietic cell transplantation (HCT). METHODS: We performed a retrospective analysis of 44 pediatrics patients transplanted between 1990 and 2018. The median age of patients was 5 years, and 57% were male. Twenty-five received their first HCT from an HLA-matched sibling donor (MSD), 12 from a HLA matched unrelated bone marrow donor (MUD 10/10, n = 12) and 7 other HLA mismatched donors (MMD). RESULTS: After a median follow-up of 4 years, estimate 5-year overall survival (OS) for the entire cohort was 70%, 80% for MSD group, 73% for MUD, and 29% for MMD. Thirty-eight out of the 44 evaluable patients engrafted successfully. Primary and secondary graft failure was observed in five and three patients, respectively. Rates of grade II-IV and III-IV acute graft-versus-host disease (aGVHD) were 25% and 18%, respectively. Nine patients developed chronic GVHD (cGVHD). CONCLUSION: Overall survival rates observed after HLA matched donors transplant for DBA were comparable to those reported from higher-income countries and international registries.