Hypocitraturia is present when renal function is impaired in diverse nephropathies and is not related with serum bicarbonate levels.

BACKGROUND: In autosomal dominant polycystic kidney disease (ADPKD) it is frequently found a reduction in urinary citrate of unknown origin. It has been suggested that it could be a marker of acid retention in chronic kidney disease. Our aim was to compare urinary citrate in ADPKD with other nephropathies and to show its relation with serum bicarbonate. METHODS: We determined urinary citrate in patients with several nephropathies and varied renal function. We included 291 patients, 119 with glomerular diseases, 116 with ADPKD, 21 with other nephropathies, and 35 patients with normal renal function. RESULTS: Urinary citrate was higher in women and in patients with normal renal function. ADPKD patients showed similar values of urinary citrate to patients with glomerular diseases and with other nephropathies. We observed a progressive reduction in urinary citrate with renal impairment, in a comparable way among patients with ADPKD and glomerular diseases. We did not observe a relationship with serum bicarbonate. Serum uric acid levels were significantly higher in patients with glomerular diseases than in ADPKD patients, even after correction with the degree of renal function. CONCLUSIONS: Hypocitraturia is not specific of ADPKD but it is also present in all tested nephropathies and is related with renal impairment and not with serum bicarbonate. It could be interesting to study urinary citrate as a marker of renal function and as a prognostic factor.

Nefropatía IgA: efectos a corto plazo del tratamiento con prednisona sobre la proteinuria, función renal y relación con la clasificación de Oxford / IgA nephropathy: Short term effects of prednisone treatment on proteinuria, renal function and relation with Oxford classification

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Perceived stress associated with COVID-19 epidemic in Colombia: an online survey.

This study aimed to assess the prevalence and variables related to perceived stress associated with the COVID-19 pandemic in a sample of Colombian adults using a designed online cross-sectional survey. Adults answered a version of the Perceived Stress Scale (PSS-10) modified for COVID-19 (PSS-10-C), with Cronbach alpha equal to 0.86. In total, 406 individuals aged between 19 and 88 years (M = 43.9; SD = 12.4) agreed to participate in the survey: 61.8% were females, 90.6% had a university degree, 44.1% were health professionals, and 45.7% considered public health policies for preventing the spread of the disease inconsistent with scientific recommendations. PSS-10-C scores ranged from 0 to 36 (M = 16.5; SD = 7.3); 58 individuals (14.3%) scored for high perceived stress (cut-off point = 25). The inconsistency between policies and scientific evidence was significantly related to high perception of stress associated with COVID-19 (OR = 2.36; 95%CI: 1.32-4.20), after adjusting for gender. We concluded that the study group presented the prevalence of perceived stress associated with COVID-19 at high levels, arising from the inconsistent strategies developed by health authorities in view of scientific recommendations. Further researches must address the psychosocial aspects of epidemics.

A phase 1, randomized double-blind, placebo controlled trial to evaluate safety and efficacy of epigallocatechin-3-gallate and cognitive training in adults with Fragile X syndrome.

BACKGROUND & AIMS: Despite the wide spectrum of experimental compounds tested in clinical trials, there is still no proven pharmacological treatment available for Fragile-X syndrome (FXS), since several targeted clinical trials with high expectations of success have failed to demonstrate significant improvements. Here we tested epigallocatechin-3-gallate (EGCG) as a treatment option for ameliorating core cognitive and behavioral features in FXS. METHODS: We conducted preclinical studies in Fmr1 knockout mice (Fmr1-/y) using novel object-recognition memory paradigm upon acute EGCG (10 mg/kg) administration. Furthermore we conducted a double-blind placebo-controlled phase I clinical trial (TESXF; NCT01855971). Twenty-seven subjects with FXS (18-55 years) were administered of EGCG (5-7 mg/kg/day) combined with cognitive training (CT) during 3 months with 3 months of follow-up after treatment discontinuation. RESULTS: Preclinical studies showed an improvement in memory using the Novel Object Recognition paradigm. We found that FXS patients receiving EGCG + CT significantly improved cognition (visual episodic memory) and functional competence (ABAS II-Home Living skills) in everyday life compared to subjects receiving Placebo + CT. CONCLUSIONS: Phase 2 clinical trials in larger groups of subjects are necessary to establish the therapeutic potential of EGCG for the improvement of cognition and daily life competences in FXS.

Perceived stress associated with COVID-19 epidemic in Colombia: an online survey / Estrés percibido relacionado con la epidemia de COVID-19 en Colombia: una encuesta en línea / Percepção de estresse relacionado à epidemia da COVID-19 na Colômbia: uma pesquisa eletrônica

Abstract: This study aimed to assess the prevalence and variables related to perceived stress associated with the COVID-19 pandemic in a sample of Colombian adults using a designed online cross-sectional survey. Adults answered a version of the Perceived Stress Scale (PSS-10) modified for COVID-19 (PSS-10-C), with Cronbach alpha equal to 0.86. In total, 406 individuals aged between 19 and 88 years (M = 43.9; SD = 12.4) agreed to participate in the survey: 61.8% were females, 90.6% had a university degree, 44.1% were health professionals, and 45.7% considered public health policies for preventing the spread of the disease inconsistent with scientific recommendations. PSS-10-C scores ranged from 0 to 36 (M = 16.5; SD = 7.3); 58 individuals (14.3%) scored for high perceived stress (cut-off point = 25). The inconsistency between policies and scientific evidence was significantly related to high perception of stress associated with COVID-19 (OR = 2.36; 95%CI: 1.32-4.20), after adjusting for gender. We concluded that the study group presented the prevalence of perceived stress associated with COVID-19 at high levels, arising from the inconsistent strategies developed by health authorities in view of scientific recommendations. Further researches must address the psychosocial aspects of epidemics.

Resumen: El objetivo de este estudio fue conocer la prevalencia, y algunas variables asociadas con el estrés percibido relacionado con la epidemia de COVID-19, en una muestra de adultos colombianos. Los autores diseñaron una encuesta transversal en línea. Los adultos respondieron una versión modificada de la Escala de Estrés Percibido (Perceived Stress Scale, por su siglas en inglés PSS-10); relacionado con la COVID-19 (PSS-10-C) y su alfa de Cronbach fue 0,86. Un total de 406 encuestados aceptaron participar. Las edades de los encuestados oscilaban entre los 19 y los 88 años (M = 43,9; DE = 12,4). Un 61,8% eran mujeres, un 90,6% con educación universitaria, un 44,1% trabajadores del sector salud, y un 45,7% de los participantes consideraron que las políticas públicas de salud para prevenir la propagación de la epidemia no se adecuaron a las recomendaciones científicas. El PSS-10-C tuvo una puntuación entre 0 y 36 (M = 16,5; DE = 7,3); un total de 58 participantes (14,3%) obtuvieron una puntuación para alto estrés percibido (punto de corte en 25). La inconsistencia entre las políticas tomadas y las evidencias científicas estuvo significativamente asociada con un alto estrés percibido, en relación con el COVID-19 (OR = 2,36; 95%CI: 1,32-4,20), tras realizar un ajuste por sexo. En conclusión, es alta la prevalencia del estrés percibido relacionado con el COVID-19 en esta muestra de personas colombianas. El estrés alto está relacionado con la percepción de inconsistencia entre los acuerdos de las autoridades de salud y las recomendaciones científicas. Asimismo, se necesitan más investigaciones enfocadas en los aspectos psicosociales de la epidemia.

Resumo: O estudo teve como objetivo conhecer a prevalência e algumas variáveis associadas à percepção de estresse relacionado à pandemia da COVID-19 em uma amostra de adultos colombianos. Os autores desenharam um estudo transversal. Os adultos responderam a uma versão modificada da Perceived Stress Scale para a COVID-19 (PSS-10-C), que apresentou alfa de Cronbach de 0,86. Um total de 406 adultos concordou em participar. A idade dos participantes variava de 19 a 88 anos (M = 43,9, DP = 12,4). 61,8% eram mulheres, 90,6% tinham bolsas de estudo, 44,1% eram profissionais de saúde e 45,7% achavam que as políticas de saúde pública para prevenir a propagação da epidemia não estavam de acordo com as recomendações cientificas. A pontuação da PSS-10-C variava entre 0 e 36 (M = 16,5; DP = 7,3); um total de 58 participantes (14,3%) tiveram pontuação alta para estresse percebido (ponto de corte de 25). A inconsistência entre as políticas adotadas e as evidências científicas mostraram uma associação significativa com alta percepção de estresse relacionado à COVID-19 (OR = 2,36; IC95%: 1,32-4,20), depois de ajustar para o gênero. O estudo conclui que havia alta prevalência de estresse percebido relacionado à COVID-19 nessa amostra de adultos colombianos. O estresse alto está relacionado à percepção de inconsistência entre as propostas das autoridades sanitárias e as recomendações científicas. São necessários mais estudos para tratar dos aspectos psicossociais das epidemias.

Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users.

BACKGROUND: The heritability of several psychiatric disorders is high, and specific at-risk variants have been identified. Therefore, genetic counseling and genetic testing can be prescribed to some psychiatric patients, but these services are not standardized for most of the population. The aims of the study were to gather opinions from mental health professionals and users regarding (a) the genetics of psychiatric disorders and (b) the usefulness of a genetic counseling unit in psychiatry. METHODS: The survey was conducted in the province of Tarragona (Spain), and we analyzed 152 valid questionnaires from professionals and 959 from users. RESULTS: Sixty-one percent of professionals strongly believed that psychiatric disorders have a genetic basis, and 59% rated a genetic counseling unit in psychiatry as very or extremely useful. However, only a few professionals reported that patients asked them about the genetics of their diseases (12%) or the possibility of transmitting the disease to offspring (19%). Forty-seven percent of users strongly believed that psychiatric disorders have a genetic basis, 30% responded that they talked with their families about the genetics of their diseases, and 43% were worried about transmitting the disease to offspring; however, only 14% reported that their psychiatrist had talked to them about this topic. Remarkably, 80% of users would consider a genetic counseling unit very or extremely useful. CONCLUSIONS: The present study showed that mental health professionals were more aware of the genetic basis of psychiatric disorders than users, and both considered the implementation of a genetic counseling service very useful.

Discoidin domain receptor 1 gene variants are associated with decreased white matter fractional anisotropy and decreased processing speed in schizophrenia.

DDR1 has been linked to schizophrenia (SZ) and myelination. Here, we tested whether DDR1 variants in people at risk for SZ influence white matter (WM) structural variations and cognitive processing speed (PS). First, following a case-control design (Study 1), SZ patients (N = 1193) and controls (N = 1839) were genotyped for rs1264323 and rs2267641 at DDR1, and the frequencies were compared. We replicated the association between DDR1 and SZ (rs1264323, adjusted P = 0.015). Carriers of the rs1264323AA combined with the rs2267641AC or CC genotype are at risk to develop SZ compared to the other genotype combinations. Second, SZ patients (Study 2, N = 194) underwent an evaluation of PS using the Trail Making Test (TMT) and DDR1 genotyping. To compare PS between DDR1 genotype groups, we conducted an analysis of covariance (including rs1264323 as a covariate) and found that SZ patients with the rs2267641CC genotype had decreased PS compared to patients with the AA and AC genotypes. Third, 54 patients (Study 3) from Study 2 were selected based on rs1264323 genotype to undergo reevaluation, including a DTI-MRI brain scan. To test for associations between PS, WM microstructure and DDR1 genotype, we first localized those WM regions where fractional anisotropy (FA) was correlated with PS and tested whether FA showed differences between the rs1264323 genotypes. SZ patients with the rs1264323AA genotype showed decreased FA in WM regions associated with decreased PS. We conclude that DDR1 variants may confer a risk of SZ through WM microstructural alterations leading to cognitive dysfunction.

The POMONA-ESP project methodology: Collecting data on health indicators for people with intellectual developmental disorders.

BACKGROUND: People with intellectual developmental disorders have significant health disparities and a lack of proper attention to their health needs. They have been underrepresented in scientific research, and very few studies have been carried out using a representative randomized sample. The aim of this study was to describe the methods used in the POMONA-ESP project to recruit a representative and randomized sample of participants with intellectual developmental disorders. METHODS: The POMONA-ESP project is an observational cross-sectional study. It aims to explore the health status of people with intellectual developmental disorders across Spain and the use they make of health services. RESULTS AND CONCLUSIONS: The results of the POMONA-ESP project may have a major impact on people with intellectual developmental disorders and society in general. It is the first study to obtain geographically representative epidemiological data from a large sample, information that is fundamental to improving care and healthcare planning for people with intellectual developmental disorders.

Health indicators in intellectual developmental disorders: The key findings of the POMONA-ESP project.

BACKGROUND: The aim of this paper was to summarize the main results of the POMONA-ESP project, the first study to explore health status in a large representative, randomized and stratified sample of people with intellectual developmental disorders in Spain. METHODS: The POMONA-ESP project collected information about the health of 953 individuals with intellectual developmental disorders. RESULTS: Diseases such as urinary incontinence, oral problems, epilepsy, constipation or obesity were highly prevalent among the participants; with gender-differentiated prevalences for certain conditions, and age and intellectual disability level as risk factors for disease. Overmedication was common in the sample, and drugs were often prescribed without any clinical indication or follow-up. The present authors also found a lack of important relevant information about the participant's health and a lack of adequate genetic counselling. CONCLUSIONS: Our findings may contribute to a better understanding of health status and needs of people with intellectual developmental disorders and suggest several courses of action to improve their health care.

Psychometric Properties of Spanish Adaptation of the PDD-MRS Scale in Adults with Intellectual Developmental Disorders: The EVTEA-DI Scale.

Strategies for the early detection of autism spectrum disorders (ASD) in people with intellectual developmental disorder (IDD) are urgently needed, but few specific tools have been developed. The present study examines the psychometric properties of the EVTEA-DI, a Spanish adaptation of the PDD-MRS, in a large randomized sample of 979 adults with IDD. Factorial solution analysis suggested a three-factor solution (stereotyped behavior, communication, and social behavior). The EVTEA-DI showed good reliability and convergent validity when compared to the Childhood Autism Rating Scale. Discriminative validity analysis resulted in an acceptable global sensitivity of 70% and a high specificity of 90%. The EVTEA-DI proved to be a valid screening tool in ASD assessment of the adult Spanish population with IDD.

Synergistic deleterious effect of chronic stress and sodium azide in the mouse hippocampus.

Alzheimer's disease is the most common cause of dementia in the elderly. Although the primary cause of the disease is presently unknown, to date several risk factors have been described. Evidence suggests that one of these risk factors could be chronic stress. The aim of this work is to demonstrate that chronic stress is able to induce Alzheimer's disease features after the administration of nontoxic doses of sodium azide. We found that chronic stress increases the levels of several proteins involved in Alzheimer's disease pathogenesis, such as presenilin 1, presenilin 2, and S100ß, besides inducing the aggregation of Tau, ubiquitin, and ß-amyloid proteins in the hippocampus. More important, our work shows a synergistic effect of stress and sodium azide treatment leading to significant neuronal death in the mouse hippocampus. Our results point out that chronic stress is a risk factor contributing to amplify and accelerate Alzheimer's disease features in the hippocampus.

Chronic stress as a risk factor for Alzheimer's disease.

This review aims to point out that chronic stress is able to accelerate the appearance of Alzheimer's disease (AD), proposing the former as a risk factor for the latter. Firstly, in the introduction we describe some human epidemiological studies pointing out the possibility that chronic stress could increase the incidence, or the rate of appearance of AD. Afterwards, we try to justify these epidemiological results with some experimental data. We have reviewed the experiments studying the effect of various stressors on different features in AD animal models. Moreover, we also point out the data obtained on the effect of chronic stress on some processes that are known to be involved in AD, such as inflammation and glucose metabolism. Later, we relate some of the processes known to be involved in aging and AD, such as accumulation of ß-amyloid, TAU hyperphosphorylation, oxidative stress and impairement of mitochondrial function, emphasizing how they are affected by chronic stress/glucocorticoids and comparing with the description made for these processes in AD. All these data support the idea that chronic stress could be considered a risk factor for AD.

Obesity, Metabolic Syndrome, and Dietary Therapeutical Approaches with a Special Focus on Nutraceuticals (Polyphenols): A Mini-Review.

More than half of all global deaths in 2010 were related to non-communicable diseases, including obesity, cancers, diabetes, and cardiovascular illnesses. It has been suggested that the alarming increase in the incidence of cardiovascular disease is the epidemiologic result of a nutrition transition characterized by dietary patterns featuring an increase in the intake of total fat, cholesterol, sugars, and other refined carbohydrates, concomitant with low consumption of polyunsaturated fatty acids and fiber. Although traditional dietary approaches have proven successful as part of the treatment for obesity and cardiometabolic derangements within clinical trial scenarios, they lack effectiveness in the long term, mainly due to poor compliance. Research has thus turned its attention to nutraceutics, nutrients that have the ability to modulate physiological and pathophysiological molecular mechanisms, thus resulting in favorable health outcomes. Polyphenols have been considered as among the bioactive molecules as they are thought to yield beneficial effects by exerting antioxidant activity; however, there are other--and even more robust--metabolic pathways through which polyphenols enhance cardiovascular health, such as via promoting vasodilatory, anti-atherogenic, antithrombotic, and anti-inflammatory effects. No standard dose has yet been determined, as the effects greatly vary among polyphenols and food sources; thus, there is an imperative need to generate more evidence in order to support dietary recommendations aimed at the prevention and therapeutics of obesity and its associated cardiometabolic diseases.

Uso da lidocaína tópica a 4% para terapia ocupacional em pacientes com síndrome dolorosa complexa regional: relato de casos / Topic 4% lidocaine for occupational therapy of patients with complex regional pain syndrome: case reports

JUSTIFICATIVA E OBJETIVOS: A síndrome dolorosa complexa regional (SDCR) é uma desordem do sistema nervoso central com disfunção simpática. Sua fisiopatologia não está esclarecida. Perifericamente há inflamação e hipóxia. A dor traz angústia para o paciente. O objetivo deste estudo foi relatar e avaliar o uso da lidocaína tópica a 4% durante a terapia ocupacional em pacientes ambulatoriais com SDCR. RELATO DOS CASOS: Foram estudados 5 pacientes, com idades acima de 18 anos, com SDCR tipo I e II de membro superior, avaliados em 6 consultas, com intervalos de 7 dias entre elas. Na primeira eram medicados com gabapentina e nas 5 posteriores a dose era aumentada. A partir da segunda consulta era utilizada a lidocaína a 4% tópica cerca de 30 minutos antes da realização dos exercícios de reabilitação do membro. Em 4 pacientes a SDCR era do tipo I. Em ordem decrescente os sintomas referidos foram: fisgada, queimação, alodínia, choque e parestesia. Todos os pacientes apresentavam edema e disfunção motora. Com a lidocaína tópica a 4% foi possível a realização dos exercícios orientados pelo terapeuta ocupacional, em regime ambulatorial, ocorrendo redução significativa da intensidade da dor. CONCLUSÃO: A lidocaína tópica a 4% permitiu a realização da reabilitação ocorrendo redução significativa da intensidade da dor.

BACKGROUND AND OBJECTIVES: Complex regional pain syndrome (CRPS) is a central nervous system disorder with sympathetic dysfunction. Its pathophysiology is not clear. There is peripheral inflammation and hypoxia. Pain distresses patients. These case reports aimed at evaluating topic 4% lidocaine during occupational therapy of outpatients with CRPS. CASE REPORTS: Participated in this study five patients aged above 18 years, with upper limb CRPS types I and II, who were evaluated in six visits with an interval of seven days. In the first, they were medicated with gabapentin and in the other five the dose was increased. As from the second visit, topic 4% lidocaine was applied approximately 30 minutes before rehabilitation exercises. Four patients had CRPS type I. In decreasing order, referred symptoms were: sting, burning, allodynia, shock and paresthesia. All patients had edema and motor dysfunction. Topic 4% lidocaine allowed patients to perform the exercises proposed by the occupational therapist, in outpatient regimen, with significant pain intensity improvement. CONCLUSION: Topic 4% lidocaine allowed rehabilitation with significant pain intensity improvement.

Atrial fibrillation in incident dialysis patients.

Despite the importance of cardiovascular disease in dialysis patients, the frequency of atrial fibrillation in incident dialysis patients has not been determined. We analyzed the prevalence of atrial fibrillation in patients starting dialysis over a 4-year period, its occurrence over the course of dialysis, and its influence on ischemic stroke and mortality. Factors predisposing to atrial fibrillation were noted, as was the influence of arrhythmia on mortality and presentation of ischemic stroke. Of the 256 patients studied, 31 had atrial fibrillation at the start of dialysis. Increased age, larger left atrium, and female gender were independently related to the presence of atrial fibrillation at dialysis inception. Of the 225 patients who were in sinus rhythm at the start of dialysis, 28 developed atrial fibrillation during a mean follow-up time of 2 years. The presence of valvular calcifications, bundle branch block, previous ischemic stroke, lower ejection fraction, higher pulse pressure, and lower hemoglobin concentration were predictors of the clinical evolution of atrial fibrillation. Overall, atrial fibrillation increased mortality risk 1.72-fold and ischemic stroke risk 9.8-fold. Therefore, it appears that atrial fibrillation is quite prevalent and its presence is associated with significant risk.