Achieving Equity in EMS Care and Patient Outcomes Through Quality Management Systems: A Position Statement.

Improving health and safety in our communities requires deliberate focus and commitment to equity. Inequities are differences in access, treatment, and outcomes between individuals and across populations that are systemic, avoidable, and unjust. Within health care in general, and Emergency Medical Services (EMS) in particular, there are demonstrated inequities in the quality of care provided to patients based on a number of characteristics linked to discrimination, exclusion, or bias. Given the critical role that EMS plays within the health care system, it is imperative that EMS systems reduce inequities by delivering evidence-based, high-quality care for the communities and patients we serve. To achieve equity in EMS care delivery and patient outcomes, the National Association of EMS Physicians recommends that EMS systems and agencies: make health equity a strategic priority and commit to improving equity at all levels.assess and monitor clinical and safety quality measures through the lens of inequities as an integrated part of the quality management process.ensure that data elements are structured to enable equity analysis at every level and routinely evaluate data for limitations hindering equity analysis and improvement.involve patients and community stakeholders in determining data ownership and stewardship to ensure its ongoing evolution and fitness for use for measuring care inequities.address biases as they translate into the quality of care and standards of respect for patients.pursue equity through a framework rooted in the principles of improvement science.

Models in vivo and in vitro for the study of acute and chronic inflammatory activity: A comprehensive review.

Inflammatory conditions are among the principal causes of morbidity worldwide, and their treatment continues to be a challenge, given the restricted availability of effective and safe drugs. Thus, the identification of new compounds with biological activity that can be used for the treatment of inflammatory disorders is an essential field in medical and health research, in order to improve the health and quality of life of patients suffering from these diseases. Evaluation of the anti-inflammatory activity of drugs requires the implementation of models that accurately depict the biochemical and/or physiological responses that characterize human inflammation; for this reason, several in vitro and in vivo models have been developed, providing a platform for discovering novel or repurposed compounds. For this reason, in the present review we have selected twelve commonly used models for the evaluation of the anti-inflammatory effect, and extensively describes the difference between in vivo and in vitro models of inflammation, highlighting their advantages and limitations. On the other hand, the inflammatory mechanisms involved in them, the methods employed for their establishment, and the different parameters assessed to determine the anti-inflammatory activity of a given compound are extensively discussed. We expect to provide a comprehensive guide for the improved selection of a suitable model for the preclinical evaluation of plausible anti-inflammatory agents.

Data Augmentation Enhances Plant-Genomic-Enabled Predictions.

Genomic selection (GS) is revolutionizing plant breeding. However, its practical implementation is still challenging, since there are many factors that affect its accuracy. For this reason, this research explores data augmentation with the goal of improving its accuracy. Deep neural networks with data augmentation (DA) generate synthetic data from the original training set to increase the training set and to improve the prediction performance of any statistical or machine learning algorithm. There is much empirical evidence of their success in many computer vision applications. Due to this, DA was explored in the context of GS using 14 real datasets. We found empirical evidence that DA is a powerful tool to improve the prediction accuracy, since we improved the prediction accuracy of the top lines in the 14 datasets under study. On average, across datasets and traits, the gain in prediction performance of the DA approach regarding the Conventional method in the top 20% of lines in the testing set was 108.4% in terms of the NRMSE and 107.4% in terms of the MAAPE, but a worse performance was observed on the whole testing set. We encourage more empirical evaluations to support our findings.

Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion.

Williams Syndrome (WS) is a neurodevelopmental disorder with a distinctive physical, cognitive, and behavioral profile caused by a microdeletion in the q11.23 region of chromosome 7. The neuropsychological profile of WS is characterized by intellectual disability, hypersociability, and deficits, especially in attention and visuospatial skills. Our objective was to assess the effectiveness of a neuropsychological intervention program in attention and visuospatial skills in two patients with WS (aged 7 and 13 years old) with different types of deletion (1.5 and 1.8 Mb). Cognitive, behavioral, and adaptive abilities were evaluated through various neuropsychological tests and scales; the neuropsychological intervention program was subsequently applied, and we assessed its effectiveness. Both patients initially presented significant deficits in attention and visuospatial skills. After the program, we found improvements in attention and visuospatial skills. In addition, both patients had significant clinical advances and changes in adaptive behaviors (social and self-care). These findings suggest that this intervention program could improve attention processes, visuospatial skills, and some aspects of adaptive behavior in patients with WS, regardless of deletion size. Although the sample was small, limiting the generalizability of the results, we believe this program could be a helpful resource for professionals working with individuals with WS.

Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.

Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case studies have suggested that the cognitive, behavioral, emotional, and social profile in WS could depend on the genes involved in the deletion. The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypical deletion and its probable relationship with the affected genes. The medical subject headings searched were "Williams syndrome," "genotype," "phenotype," "cognitive profile," and "atypical deletion." The studies included were in English or Spanish, with children and adults, and published between January 2000 and October 2022. Twenty-three studies are reported. The characteristics of the participants, the genes involved, the neuropsychological domains and instruments, and the prevalence of the WS cognitive profile criteria were used for the genotype-phenotype analysis. The genes with a major impact on the cognitive profile of WS were (a) LIMK1 and those belonging to the GTF2I family, the former with a greater influence on visuospatial abilities; (b) GTF2IRD1 and GTF2I, which have an impact on intellectual capacity as well as on visuospatial and social skills; (c) FZD9, BAZ1B, STX1A, and CLIP2, which influence the cognitive profile if other genes are also effected; and (d) GTF2IRD2, which is related to the severity of the effect on visuospatial and social skills, producing a behavioral phenotype like that of the autism spectrum. The review revealed four neuropsychological phenotypes, depending on the genes involved, and established the need for more comprehensive study of the neuropsychological profile of these patients. Based on the results found, we propose a model for the investigation of and clinical approach to the WS neuropsychological phenotype.

Verbal intelligence and leisure activities are associated with cognitive performance and resting-state electroencephalogram.

Cognitive reserve (CR) is the adaptability of cognitive processes that helps to explain differences in the susceptibility of cognitive or daily functions to resist the onslaught of brain-related injury or the normal aging process. The underlying brain mechanisms of CR studied through electroencephalogram (EEG) are scarcely reported. To our knowledge, few studies have considered a combination of exclusively dynamic proxy measures of CR. We evaluated the association of CR with cognition and resting-state EEG in older adults using three of the most frequently used dynamic proxy measures of CR: verbal intelligence, leisure activities, and physical activities. Multiple linear regression analyses with the CR proxies as independent variables and cognitive performance and the absolute power (AP) on six resting-state EEG components (beta, alpha1, alpha2, gamma, theta, and delta) as outcomes were performed. Eighty-eight healthy older adults aged 60-77 (58 female) were selected from previous study data. Verbal intelligence was a significant positive predictor of perceptual organization, working memory, processing speed, executive functions, and central delta power. Leisure activities were a significant positive predictor of posterior alpha2 power. The dynamic proxy variables of CR are differently associated with cognitive performance and resting-state EEG. Implementing leisure activities and tasks to increase vocabulary may promote better cognitive performance through compensation or neural efficiency mechanisms.

Descripción de la disponibilidad y normas para el uso de las benzodiacepinas en algunos países de América Latina, 2022 / Description of benzodiazepines availability and regulation in several countries of Latin America, 2022 / Descrição da disponibilidade e regulamentação para o uso de benzodiazepínicos em alguns países da América Latina, 2022

Resumen: Introducción: las benzodiacepinas constituyen un grupo farmacológico de amplia prescripción a nivel mundial desde su aparición en la década de 1960. El objetivo del presente estudio fue identificar la disponibilidad, las modalidades de prescripción y dispensación de benzodiacepinas en diferentes países de América Latina, según reglamentación vigente en cada país participante del estudio. Materiales y métodos: estudio observacional, descriptivo y transversal, realizado con los datos disponibles al año 2022 de todos los países miembros de la Red de Centros de Información de Medicamentos de LatinoAmérica y el Caribe (Red CIMLAC) que fueron parte del estudio. Se utilizaron las bases de datos de las agencias regulatorias, la reglamentación vigente y otros documentos necesarios para obtener la información sobre la dispensación y prescripción en cada país. Resultados: doce de los 20 países de la Red CIMLAC completaron el estudio. El total de benzodiacepinas disponible en cada país varió entre 6 y 12 (media: 9). De ellas, en promedio 5 estaban incluidas en listados de medicamentos esenciales nacionales. La mayoría de los países cuentan con combinaciones a dosis fijas con benzodiacepinas. En todos los países se realiza la prescripción por receta especial. Más de la mitad de los países cuentan con recomendaciones nacionales. Conclusiones: la amplia disponibilidad de benzodiacepinas comercializadas, la existencia de combinaciones a dosis fijas y la falta de recomendaciones nacionales pueden ser factores que contribuyan al uso irracional de este grupo terapéutico.

Summary: Introduction: benzodiazepines constitute a widely prescribed group of drugs around the world, since they appeared in the sixties. This study aims to identify the availability, prescription modalities and dispensing of benzodiazepines in different countries around Latin America, as per the legal provisions in force in each of the countries participating in the study. Method: observational, descriptive, transversal study based on the information available in 2022 about all the member countries of the Network Medicines Information Centers of Latin America and the Caribbean (CIMLAC Network) that were part of the study. The databases of regulatory authorities were used and the legal provisions in force and relevant documents were consulted in order to obtain information on benzodiazepines dispensing and prescription in each country. Results: twelve out of the 20 CIMLAC Network member countries completed the study. The total number of benzodiazepines available in the study ranged from 6 to 12 (mean was 9), and 5 of them on average were included in the national essential medications lists. Most countries have benzodiazepines fixed dose combinations and in all countries a special medical prescription is needed. More than half of the countries have national recommendations. Conclusions: the wide availability of benzodiazepines in the market, the existence of fixed-dose combinations and the lack of national recommendations may constitute factors that contribute to the irrational use of this group of drugs.

Resumo: Introdução: os benzodiazepínicos constituem um grupo farmacológico amplamente prescrito em todo o mundo desde seu surgimento na década de 1960. O objetivo deste estudo foi identificar a disponibilidade, prescrição e modalidades de dispensação de benzodiazepínicos em diferentes países da América Latina, de acordo com as regulamentações vigentes em cada país participante do estudo. Materiais e métodos: estudo observacional, descritivo e transversal, realizado com os dados disponíveis até o ano de 2022 dos países membros da Rede de Centros de Informação sobre Medicamentos da América Latina e do Caribe (Red CIMLAC) que faziam parte do estudo. As bases de dados das agências reguladoras, normas vigentes e outros documentos necessários foram utilizados para obter informações sobre dispensação e prescrição em cada país. Resultados: doze dos 20 países da Rede CIMLAC completaram o estudo. O número total de benzodiazepínicos disponíveis em cada país variou entre 6 e 12 (média: 9). Destes, uma média de 5 foram incluídos nas listas nacionais de medicamentos essenciais. A maioria dos países tem combinações de dose fixa com benzodiazepínicos. Em todos os países é necessário prescrição especial. Mais da metade dos países têm recomendações nacionais. Conclusões: a ampla disponibilidade de benzodiazepínicos comercializados, a existência de combinações em doses fixas e a falta de recomendações nacionais podem ser fatores que contribuem para o uso irracional desse grupo terapêutico.

Natural marine products as antiprotozoal agents against amitochondrial parasites.

The goal of this work is to compile and discuss molecules of marine origin reported in the scientific literature with anti-parasitic activity against Trichomonas, Giardia, and Entamoeba, parasites responsible for diseases that are major global health problems, and Microsporidial parasites as an emerging problem. The presented data correspond to metabolites with anti-parasitic activity in human beings that have been isolated by chromatographic techniques from marine sources and structurally elucidated by spectroscopic and spectrometric procedures. We also highlight some semi-synthetic derivatives that have been successful in enhancing the activity of original compounds. The biological oceanic reservoir offers the possibility to discover new biologically active molecules as lead compounds to develop new drug candidates. The molecular variety is extensive and must be correctly explored and managed. Also, it will be necessary to take some actions to preserve the source species from extinction or overharvest (e.g., by cryopreservation of coral spermatozoa, oocytes, embryos, and larvae) and coordinate appropriate exploitation to increase the chemical knowledge of the natural products generated in the oceans. Additional initiatives such as the total synthesis of complex natural products and their derivatives can help to prevent overharvest of the marine ecosystems and at the same time contribute to the discovery of new molecules.

Syntactic Gender Agreement Processing on Direct-Object Clitics by Spanish-Speaking Children with Developmental Language Disorder: Evidence from ERP.

Children with developmental language disorder (DLD) have a psycholinguistic profile evincing multiple syntactic processing impairments. Spanish-speaking children with DLD struggle with gender agreement on clitics; however, the existing evidence comes from offline, elicitation tasks. In the current study, we sought to determine whether converging evidence of this deficit can be found. In particular, we use the real-time processing technique of event-related brain potentials (ERP) with direct-object clitic pronouns in Spanish-speaking children with DLD. Our participants include 15 six-year-old Mexican Spanish-speaking children with DLD and 19 typically developing, age-matched (TD) children. Auditory sentences that matched or did not match the gender features of antecedents represented in pictures were employed as stimuli in a visual-auditory gender agreement task. Gender-agreement violations were associated with an enhanced anterior negativity between 250 and 500 ms post-target onset in the TD children group. In contrast, children with DLD showed no such effect. This absence of the left anterior negativity (LAN) effect suggests weaker lexical representation of morphosyntactic gender features and/or non-adult-like morphosyntactic gender feature checking for the DLD children. We discuss the relevance of these findings for theoretical accounts of DLD. Our findings may contribute to a better understanding of syntactic agreement processing and language disorders.

Clinical relevance of lipid panel and aminotransferases in the context of hepatic steatosis and fibrosis as measured by transient elastography (FibroScan®).

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease and is associated with various co-morbidities. Transient elastography (FibroScan®) is a non-invasive method to detect NAFLD using the controlled attenuation parameter (CAP). We aimed to evaluate the association of the lipid panel and aminotransferases concentrations with the presence or absence of steatosis and fibrosis. METHODS: One hundred and five patients with NAFLD were included. Hepatic steatosis was quantified by CAP (dB/m) and liver stiffness by Kilopascals (kPa), these values were then analyzed against patient lipid panel and serum concentrations of the liver enzymes aspartate aminotransferase (AST) and alanine aminotransferase (ALT). A correlation and multiple regression were used. Mann-Whitney U test was used as non-parametric analysis. RESULTS: We observed an association between hepatic steatosis and total cholesterol (B = 0.021, p = 0.038, Exp (B) = 1.021, I.C = 1.001-1.041) as well as serum triglycerides (B = 0.017, p = 0.006, Exp (B) = 1.018 and I.C = 1.005-1.030). Similarly, we found an association between significant hepatic fibrosis and lower concentrations of total cholesterol (B = -0.019, p = 0.005, Exp (B) = 0.982 I.C = 0.969-0.995) and elevated AST (B = 0.042, p = 3.25 × 10-4, Exp (B) = 1.043 I.C = 1.019-1.068) independent of age, gender and BMI. CONCLUSIONS: Our results suggest that, total cholesterol and triglyceride concentrations positively correlate with hepatic steatosis while significant hepatic fibrosis is associated with lower total cholesterol and higher AST concentrations.

Frontal functional connectivity and disease duration interactively predict cognitive decline in Parkinson's disease.

OBJECTIVE: Cognitive decline does not always follow a predictable course in Parkinson's disease (PD), with some patients remaining stable while others meet criteria for dementia from early stages. Functional connectivity has been proposed as a good correlate of cognitive decline in PD, although it has not been explored whether the association between this connectivity and cognitive ability is influenced by disease duration, which was our objective. METHODS: We included 30 patients with PD and 15 healthy controls (HC). Six cognitive domains were estimated based on neuropsychological assessment. Phase-based connectivity at frontal and posterior cortical regions was estimated from a resting EEG. RESULTS: The PD group showed significant impairment for the executive, visuospatial, and language domains compared with HC. Increased connectivity at frontal regions was also found in the PD group. Frontal delta and theta connectivity negatively influenced general cognition and visuospatial performance, but this association was moderated by disease duration, with increased connectivity predicting worse performance after 8 years of disease duration. CONCLUSION: Subtle neurophysiological changes underlie cognitive decline along PD progression, especially around a decade after motor symptoms onset. SIGNIFICANCE: Connectivity of EEG slow waves at frontal regions might be used as a predictor of cognitive decline in PD.

Antinociceptive and anti-inflammatory effects of Cuphea aequipetala Cav (Lythraceae).

Cuphea aequipetala Cav (Lythraceae) is an herb used in folk treatment for pain and inflammation. The aim of this study was to evaluate the antinociceptive and anti-inflammatory actions of an ethanol extract from the leaves and stem of Cuphea aequipetala (CAE). The antinociceptive actions of CAE (10-200 mg/kg p.o.) were assessed with the acetic acid-induced writhing, hot plate, and formalin tests. The possible mechanism of action of CAE was evaluated using inhibitors. The effects of CAE on motor coordination were assessed by the rotarod test. The in vitro anti-inflammatory actions of CAE were evaluated using LPS-stimulated primary murine macrophages, and the in vivo anti-inflammatory actions were assessed by the TPA-induced ear oedema and the carrageenan-induced paw oedema tests. The production of inflammatory mediators was estimated from both in vitro and in vivo assays. CAE showed antinociception (ED50 = 90 mg/kg) in the acetic acid test and in the second phase of the formalin test (ED50 = 158 mg/kg). Pretreatment with glibenclamide or L-NAME partially reversed the antinociception shown by the plant extract. CAE (50-200 mg/kg) did not affect motor coordination in mice. CAE increased the production of IL-10 in LPS-stimulated macrophages (EC50 = 10 pg/ml) and, in the carrageenan-induced paw oedema test (threefold increase). In conclusion, CAE induced antinociceptive effects without affecting motor coordination, probably due to the involvement of nitric oxide and ATP-sensitive K+ channels. CAE also exerts in vitro and in vivo anti-inflammatory effects by increasing the release of IL-10.

An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome.

An explanation for the social dysfunction observed in Williams syndrome may be deficits in social cognition. This study explored aspects of social cognition in children with Williams syndrome with different genotypes. The 12 participants included one with a 1.1 Mb deletion that retained the GTF2IRD1, GTF2I, and GTF2IRD2 genes, seven with a 1.5 Mb deletion that preserved the GTF2IRD2 gene, and four with a 1.8 Mb deletion with loss of all three genes. The participant retaining all three genes was found to have better performance on social judgment and first-order theory of mind tasks than the group with loss of all three genes. These results may reflect the influence of the GTF2I gene family on social cognition in Williams syndrome.

Poor working memory performance in healthy elderly adults with electroencephalographic risk of cognitive decline affects syntactic processing.

OBJECTIVE: To examine the effects of working memory (WM) load and gender agreement on sentence processing as a function of the electroencephalographic risk (i.e., abnormally high values of theta absolute power) of cognitive decline in older adults. METHODS: Event-related potentials (ERPs) were collected from Spanish speakers (22 older adults belonged to the Risk group, mean age = 67.7 years; 22 older adults belonged to the Control group, mean age = 65.2 years) while reading sentences to detect grammatical errors. Sentences varied with regard to (1) the gender agreement of the noun and adjective, where gender of the adjective either agreed or disagreed with the noun, and (2) WM load (i.e., the number of words between the noun and adjective in the sentence). RESULTS: The Risk group showed a lower percentage of correct answers and longer reaction times than the Control group. The Risk group also showed a different pattern of ERP components, which was characterized by smaller amplitude and longer latency of the P600a component under high WM load conditions. CONCLUSION: The findings suggest that the Risk group shows difficulties integrating information associated with the previous sentence context. SIGNIFICANCE: The electroencephalographic risk factor of cognitive decline might be not only a predictor of but also an indicator of current decline.

Auditory mismatch detection, distraction, and attentional reorientation (MMN-P3a-RON) in neurological and psychiatric disorders: A review.

Involuntary attention allows for the detection and processing of novel and potentially relevant stimuli that lie outside of cognitive focus. These processes comprise change detection in sensory contexts, automatic orientation toward this change, and the selection of adaptive responses, including reorientation to the original goal in cases when the detected change is not relevant for task demands. These processes have been studied using the Event-Related Potential (ERP) technique and have been associated to the Mismatch Negativity (MMN), the P3a, and the Reorienting Negativity (RON) electrophysiological components, respectively. This has allowed for the objective evaluation of the impact of different neuropsychiatric pathologies on involuntary attention. Additionally, these ERP have been proposed as alternative measures for the early detection of disease and the tracking of its progression. The objective of this review was to integrate the results reported to date about MMN, P3a, and RON in different neurological and psychiatric disorders. We included experimental studies with clinical populations that reported at least two of these three components in the same experimental paradigm. Overall, involuntary attention seems to reflect the state of cognitive integrity in different pathologies in adults. However, if the main goal for these ERP is to consider them as biomarkers, more research about their pathophysiological specificity in each disorder is needed, as well as improvement in the general experimental conditions under which these components are elicited. Nevertheless, these ERP represent a valuable neurophysiological tool for early detection and follow-up of diverse clinical populations.

Role of Matrix Metalloproteinases in Angiogenesis and Cancer.

During angiogenesis, new vessels emerge from existing endothelial lined vessels to promote the degradation of the vascular basement membrane and remodel the extracellular matrix (ECM), followed by endothelial cell migration, and proliferation and the new generation of matrix components. Matrix metalloproteinases (MMPs) participate in the disruption, tumor neovascularization, and subsequent metastasis while tissue inhibitors of metalloproteinases (TIMPs) downregulate the activity of these MMPs. Then, the angiogenic response can be directly or indirectly mediated by MMPs through the modulation of the balance between pro- and anti-angiogenic factors. This review analyzes recent knowledge on MMPs and their participation in angiogenesis.

Subarachnoid Mirage: A Case of Pseudosubarachnoid Hemorrhage.

A 22-year-old man with a history of intravenous methamphetamine use presented with severe headache for 5 days, was afebrile, and had nuchal rigidity. Computed tomography and magnetic resonance imaging results were interpreted as revealing acute subarachnoid hemorrhage. Twenty-four hours later, he developed acute neurologic deterioration. A lumbar puncture was performed, revealing the presence of Staphylococcus aureus. The false-positive image mimicking blood was potentially a result of an extremely high protein concentration present in the cerebrospinal fluid, provoked by an intense inflammatory reaction leading to disruption of the blood-brain barrier. Pyogenic meningitis is one of the causes of pseudosubarachnoid hemorrhage, or a false diagnosis of subarachnoid hemorrhage, when one does not actually exist.

The Role of Iron Status in the Early Progression of Metronidazole Resistance in Trichomonas vaginalis Under Microaerophilic Conditions.

Trichomonas vaginalis is the etiological agent of human trichomoniasis. Metronidazole has high treatment success rate among trichomoniasis patients. However, metronidazole-resistant T. vaginalis has been reported, contributing in an increasing number of refractory cases. The mechanism of metronidazole resistance in this parasite is still unclear. In the vaginal environment, where the microaerophilic conditions prevail but the iron concentration is constantly fluctuating, the metronidazole resistance profile of T. vaginalis could be altered. In this study, we developed metronidazole-resistant strains of T. vaginalis and evaluate if iron availability is important to the action of the drug. The modulation of iron levels and iron chelation affected the actions of metronidazole both in susceptible and resistant strains. Interestingly, the early resistant strains exhibited minor iron content. The results of transcription analysis in the early resistant strains showed dysregulation in the expression of genes that codified proteins involved in iron transporter, iron-sulfur cluster assemblage, and oxidative stress response, which could not be observed in the late resistant and susceptible strains. Our results indicate that iron content plays an important role in the metronidazole action in T. vaginalis and likely to be related to iron-sulfur proteins involved in metronidazole activation and oxidative stress via Fenton reaction.

Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.

Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5-8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. OBJECTIVES: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. METHODS: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7-18 years old. Each patient's 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. RESULTS: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. CONCLUSIONS: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896-904).

Índice metabólico en mayas: asociación con hipercolesterolemia en pacientes con diabetes tipo 2 / Metabolic index in Mayas: association with hypercholesterolemia in patients with type 2 diabetes / Índice metabólico em Mayas: associação com hipercolesterolemia em pacientes com diabetes tipo 2

El objetivo del presente estudio fue evaluar la asociación entre el índice metabólico, una medida indirecta de resistencia a la insulina, y la hipercolesterolemia en población indígena maya con diabetes tipo 2 (DT2). Se incluyeron un total de 77 pacientes indígenas mayas con diagnóstico previo de DT2. Las variables bioquímicas se analizaron por métodos fotométricos estandarizados y se calculó el índice metabólico (GB x TG/HDL-C2). Se encontró en la muestra total una correlación entre el índice metabólico y los niveles de: glucosa basal (GB) (r=0,333, p=0,001), A1c (r=0,331, p=0,003), CT (r=0,255, p=0,026), TG (r=0,762, p=1,29x10-15), HDL-C (r= -0,735, p=4,2x10-14); mientras que no existió correlación con las concentraciones de LDL-C (r=0,120, p=0,300). La asociación entre el índice metabólico e hipercolesterolemia (B=1,590, p=0,041, Exp(B)=4,901 e I.C=1,066-22,544) fue independiente de la edad, género, IMC, tiempo de evolución de DT2 y de los niveles de A1c. El trabajo presenta evidencia de la asociación entre el índice metabólico y la hipercolesterolemia, y propone el potencial uso del índice metabólico como medida indirecta de riesgo aterogénico en población indígena maya con DT2.

It is already known that combination of insulin resistance (IR) and compensatory hyperinsulinemia increases the risk of hypertension, and atherogenic dyslipidemia. These changes increase the risk of cardiovascular disease. With that in mind, the aim of the present study was to evaluate the association between elevated metabolic index, an indirect measure of insulin resistance, and hypercholesterolemia in an indigenous Mayan population with type 2 diabetes (T2D). A total of 77 indigenous Mayan patients with a previous diagnosis of T2D were included. Biochemical variables were measured by standardized photometric methods and the metabolic index (GB x TG/HDL-C2) was calculated. A correlation between the metabolic index and the levels of GB (r=0.333, p=0.001), A1c (r=0.331, p=0.003), CT (r=0.255, p=0.026), TG (r=0.762, p=1.29x10-15), HDL-C (r=-0.735, p=4.2x10-14) was found; while there was no correlation with LDL-C concentrations (r=0.120, p=0.300). The association between the metabolic index and hypercholesterolemia (B=1.590, p=0.041, Exp(B)=4.901 and I.C=1.066-22.544) was independent of A1c levels, age, gender, BMI and evolution time of DT2. The study presents evidence of the association between the metabolic index and hypercholesterolemia, and proposes the potential use of the metabolic index as an indirect measure of atherogenic risk in an indigenous Mayan population with T2D.

O objetivo do presente estudo foi avaliar a associação entre a taxa metabólica, uma medida indireta de resistência à insulina e a hipercolesterolemia na população indígena maia com diabetes tipo 2 (DT2). Foram incluídos 77 pacientes indígenas maias com diagnóstico prévio de DT2. As variáveis bioquímicas foram medidas através de métodos fotométricos padronizados e foi calculado o índice metabólico (GB x TG/HDL-C2). Uma correlação entre o índice metabólico e os níveis de glicose basal (GB) (r=0,333, p=0,001), A1c (r=0,331, p=0,003), CT (r=0,255, p=0,026), TG (r=0,762, p=1,29x10-15), HDL-C (r=-0,735, p=4,2x10-14) foi encontrada na amostra total; enquanto que não houve correlação com as concentrações de LDL-C (r=0,120, p=0,300). A associação entre o índice metabólico e a hipercolesterolemia (B=1,590, p=0,041, Exp(B)=4,901 e I.C=1,066-22,544) foi independente da idade, sexo, IMC, tempo de evolução de DT2 e dos níveis de A1c. O trabalho apresenta evidência da associação entre o índice metabólico e a hipercolesterolemia, e propõe o potencial uso do índice metabólico como medida indireta do risco aterogênico na população indígena maia com DT2.