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Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long-sought risk loci, but >95% of the cases currently in analysis are of homogenous European ancestry. If not addressed, this Eurocentric bias will result in OCD genomic findings being more accurate for individuals of European ancestry than other ancestries, thereby contributing to health disparities in potential future applications of genomics. In this study protocol paper, we describe the Latin American Trans-ancestry INitiative for OCD genomics (LATINO, https://www.latinostudy.org). LATINO is a new network of investigators from across Latin America, the United States, and Canada who have begun to collect DNA and clinical data from 5000 richly phenotyped OCD cases of Latin American ancestry in a culturally sensitive and ethical manner. In this project, we will utilize trans-ancestry genomic analyses to accelerate the identification of OCD risk loci, fine-map putative causal variants, and improve the performance of polygenic risk scores in diverse populations. We will also capitalize on rich clinical data to examine the genetics of treatment response, biologically plausible OCD subtypes, and symptom dimensions. Additionally, LATINO will help elucidate the diversity of the clinical presentations of OCD across cultures through various trainings developed and offered in collaboration with Latin American investigators. We believe this study will advance the important goal of global mental health discovery and equity.
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BACKGROUND: The SARS-CoV2 global pandemic impacted participants in the Alzheimer's Prevention Initiative (API) Autosomal Dominant Alzheimer's Disease (ADAD) clinical trial, who faced three stressors: 1) fear of developing dementia; 2) concerns about missing treatment; and 3) risk of SARS-CoV2 infection. OBJECTIVE: To describe the frequency of psychological disorders among the participants of the API ADAD Colombia clinical study, treated by a holistic mental health team during the COVID-19 pandemic. The extent of use of mental health team services was explored considering different risk factors, and users and non-users of these services were compared. METHODS: Participants had free and optional access to psychology and psychiatry services, outside of the study protocol. Descriptive statistics was used to analyze the frequency of the mental health difficulties. A multivariable logistic regression model has been used to assess associations with using this program. RESULTS: 66 participants were treated by the Mental Health Team from March 1, 2020, to December 31, 2020. Before and after the start of the pandemic, the most common psychological problems were anxiety (36.4% before, 63.6% after) and depression (34.8% before, 37.9% after). 70% of users assisted by psychology and 81.6% of those assisted by psychiatry felt that the services were useful for them. Female sex, depression, and anxiety before the pandemic were positively associated with being assisted by either psychology or psychiatry, while the association with hyperlipidemia was negative. CONCLUSIONS: A holistic mental health program, carried out in the context of a study, could mitigate psychopathology during pandemics such as COVID-19.
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Enfermedad de Alzheimer , COVID-19 , Humanos , Femenino , Enfermedad de Alzheimer/epidemiología , Enfermedad de Alzheimer/prevención & control , Enfermedad de Alzheimer/psicología , SARS-CoV-2 , Pandemias , Colombia/epidemiología , ARN Viral , Ansiedad/epidemiología , DepresiónRESUMEN
Coastal wetlands are considered one of the most vulnerable ecosystems worldwide; the ecosystem services they provide and the conservation of their biodiversity are threatened. Despite the high ecological and socioenvironmental value of coastal wetlands, regional and national vulnerability assessments are scarce. In this study we aimed to assess the vulnerability of coastal wetlands in Chile from 18°S to 42°S (n = 757) under a multiscale approach that included drivers associated with climate change and land cover change. We assessed multiple drivers of vulnerability at three spatial scales (10 m, 100 m, and 500 m) by analyzing multiple remote sensing data (16 variables) on land cover change, wildfires, climatic variables, vegetation functional properties, water surface and importance for biodiversity. We constructed a multifactorial vulnerability index based on the variables analyzed, which provided a map of coastal wetland vulnerability. Then we explored the main drivers associated with the vulnerability of each coastal wetland by performing a Principal Components Analysis with Agglomerative Hierarchical Clustering, which allowed us to group coastal wetlands according to the drivers analyzed. We found that 42.6 ± 9.2 % of the coastal wetlands evaluated have high or very high vulnerability, with higher vulnerability at the 500 m scale (51.4 %). We identified four groups of coastal wetlands: two located in central Chile, mainly affected by climate change-associated drivers (41.9 ± 2.1 %), and one in central Chile which is affected by land cover change (52.8 ± 6.2 %); the latter has a lower vulnerability level. The most vulnerable coastal wetlands were located in central Chile. Our results present novel findings about the current vulnerability of coastal wetlands, which could be validated by governmental institutions in field campaigns. Finally, we believe that our methodological approach could be useful to generate similar assessments in other world zones.
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Bifidobacterium longum is considered a microorganism with probiotic potential, which has been extensively studied, but these probiotic effects are strain dependent. This work aims to characterize the probiotic potential, based on the biochemical and genomic functionality, of B. longum LBUX23, isolated from neonates' feces. B. longum LBUX23 contains one circular genome of 2,287,838 bp with a G+C content of 60.05%, no plasmids, no CRISPR-Cas operon, possesses 56 tRNAs, 9 rRNAs, 1 tmRNA and 1776 coding sequences (CDSs). It has chromosomally encoded resistance genes to ampicillin and dicloxacillin, non-hemolytic activity, and moderate inhibition of Escherichia coli ATCC 25922 and to some emergent pathogen's clinical strains. B. longum LBUX23 was able to utilize lactose, sucrose, fructooligosaccharides (FOS), and lactulose. The maximum peak of bacterial growth was observed in sucrose and FOS at 6 h; in lactose and lactulose, it was shown at 8 h. B. longum LBUX23 can survive in gastrointestinal conditions (pH 4 to 7). A decrease in survival (96.5 and 93.8%) was observed at pH 3 and 3.5 during 120 min. argC, argH, and dapA genes could be involved in this tolerance. B. longum LBUX23 can also survive under primary and secondary glyco- or tauro-conjugated bile salts, and a mixture of bile salts due to the high extracellular bile salt hydrolase (BSH) activity (67.3 %), in taurocholic acid followed by taurodeoxycholic acid (48.5%), glycocholic acid (47.1%), oxgall (44.3%), and glycodeoxycholic acid (29.7%) probably due to the presence of the cbh and gnlE genes which form an operon (start: 119573 and end: 123812). Low BSH activity was determined intracellularly (<7%), particularly in glycocholic acid; no intracellular activity was shown. B. longum LBUX23 showed antioxidant effects in DPPH radical, mainly in intact cells (27.4%). In the case of hydroxyl radical scavenging capacity, cell debris showed the highest reduction (72.5%). In the cell-free extract, superoxide anion radical scavenging capacity was higher (90.5%). The genome of B. longum LBUX23 contains PNPOx, AhpC, Bcp, trxA, and trxB genes, which could be involved in this activity. Regarding adherence, it showed adherence up to 5% to Caco-2 cells. B. longum LBUX23 showed in vitro potential probiotic properties, mainly in BSH activity and antioxidant capacity, which indicates that it could be a good candidate for antioxidant or anti-cholesterol tests using in vivo models.
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Background: Obesity, a public health problem, is a state of metainflammation that influences the development of chronic degenerative diseases, particularly in patients with severe obesity. Objective: The objective of this study was to evidence immunometabolic differences in patients with different degrees of obesity, including severe obesity, by determining correlations between lymphocyte subpopulations and metabolic, body composition, and clinical variables. Methods: Peripheral blood immune cells (CD4+, CD8+ memory and effector T lymphocytes) were analyzed, and measures of body composition, blood pressure, and biochemical composition (glucose, glycated hemoglobin (HbA1c), insulin, C-reactive protein (CRP), and the lipid profile) were carried out in patients with different degrees of obesity. Results: The patients were classified according to total body fat (TBF) percentage as normal body fat, class 1 and 2 obesity, class 3 obesity, and class 4 obesity. The greater the TBF percentage, the more pronounced the differences in body composition (such as a decrease in the fat-free mass (FFM) that is defined as sarcopenic obesity) and the immunometabolic profile. There was an increase of CD3+ T lymphocytes (mainly CD4+, CD4+CD62-, and CD8+CD45RO+ T lymphocytes) and an increase in the TBF percentage (severity of obesity). Conclusions: The correlations between lymphocyte subpopulations and metabolic, body composition, and clinical variables demonstrated the existence of a chronic, low-intensity inflammatory process in obesity. Therefore, measuring the immunometabolic profile by means of lymphocyte subpopulations in patients with severe obesity could be useful to determine the severity of the disease and the increased risk of presenting obesity-associated chronic degenerative diseases.
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Linfocitos T CD4-Positivos , Obesidad Mórbida , Humanos , Obesidad Mórbida/metabolismo , Subgrupos Linfocitarios , Linfocitos T CD8-positivos , Obesidad/metabolismoRESUMEN
Introduction: Odontoid fractures correspond to 9-15% of cervical spine fractures. Atlas fracture is rare (3-13%)8. Case presentation: Male with Anderson and D´Alonzo Type II Odontoid fracture with unstable fragment treated with occipitocervical fixation with occipital plate, C2-C3 transfacet screws; Female with type E Jefferson fracture + anterolateral atloaxial dislocation, treated with occipitocervical fixation, C2-C3-C4 transfacet screws. Discussion: Anderson and D'Alonzo Type II fractures and Jefferson type E fractures are a surgical emergency due to instability and neurological deficit.
Introducción: Las fracturas odontoideas corresponden del 9-15% de las fracturas de la columna cervical. La fractura del atlas es poco común (3-13%)8. Presentación del caso: Masculino con fractura de Odontoides tipo II de Anderson y D´Alonzo con fragmento inestable tratado con fijación occipitocervical con placa occipital, tornillos transfacetarios C2-C3; Femenino con fractura de Jefferson tipo E+luxación atloaxoidea anterolateral, tratada con fijación occipitocervical, tornillos transfacetarios C2-C3-C4. Discusión: Fracturas tipo II de Anderson y D´Alonzo y fracturas de Jefferson tipo E son una urgencia quirúrgica debido a inestabilidad y déficit neurológico.
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Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long-sought risk loci, but >95% of the cases currently in analysis are of homogenous European ancestry. If not addressed, this Eurocentric bias will result in OCD genomic findings being more accurate for individuals of European ancestry than other ancestries, thereby contributing to health disparities in potential future applications of genomics. In this study protocol paper, we describe the Latin American Trans-ancestry INitiative for OCD genomics (LATINO, www.latinostudy.org). LATINO is a new network of investigators from across Latin America, the United States, and Canada who have begun to collect DNA and clinical data from 5,000 richly-phenotyped OCD cases of Latin American ancestry in a culturally sensitive and ethical manner. In this project, we will utilize trans-ancestry genomic analyses to accelerate the identification of OCD risk loci, fine-map putative causal variants, and improve the performance of polygenic risk scores in diverse populations. We will also capitalize on rich clinical data to examine the genetics of treatment response, biologically plausible OCD subtypes, and symptom dimensions. Additionally, LATINO will help elucidate the diversity of the clinical presentations of OCD across cultures through various trainings developed and offered in collaboration with Latin American investigators. We believe this study will advance the important goal of global mental health discovery and equity.
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Background: The intracranial migration of a ventriculoperitoneal shunt (VPS) has been previously described, it is a very rare event, and the mechanisms of this migration have not yet been elucidated. Case Description: Newborn at 38 weeks of gestation by cesarean section, with congenital hydrocephalus due to Dandy-Walker malformation that required right Frazier VPS placement. At 2-month follow-up, computed tomography of the skull showed cranial migration of VPS and dysfunction. At evaluation, there were signs of systemic infection. External ventricular drainage was placed and an intravenous antibiotic scheme for Gram-positive bacteria was started. After 3 months, cerebrospinal fluid cultures were negative and definitive VPS was decided. Conclusion: Different possible mechanisms have been proposed, such as negative intraventricular pressure, positive intra-abdominal pressure, use of valveless catheters, excessive burr hole size, as well as such as occipital ventricular access, thin cortical mantle, incorrect distal and proximal fixation, short distance between the peritoneum and ventricles, and a possible inflammatory reaction to the catheter material (silicone). A combination of these different mechanisms contributes to proximal shunt migration. Although the placement of a VPS is a procedure well taught since the 1st years of neurosurgical residency, it is not exempt from complications. Although, as was previously stated in this paper, the incidence of a complete cranial VPS migration is extremely rare, and only a few cases are documented, it is still important to report this type of cases and to try to elucidate the possible mechanisms involved.
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The validity, and thus utility, of psychological instruments requires continued evaluation of their underlying psychometric properties across contexts. Measurement tools have been developed over the past few decades to assess personality constructs developed through various theoretical frameworks. The Big Five has been a particular focus of such inquiry; however, few studies have validated a Spanish version for use in Mexico. Using two separate Mexican college student samples (Sample 1: n = 289, Sample 2: n = 309) we tested factorial structure, reliability, and validity of a Spanish translation of the Faceted Inventory of the Five-Factor Model (FI-FFM; Watson, Nus, & Wu). An exploratory factor analysis showed a similar structure to the original FI-FFM, albeit with some exceptions primarily within the Extraversion and Agreeableness domains. Furthermore, the FI-FFM scales were internally consistent and highly stable over time (average interval = 5 months). Finally, the scales showed strong convergent and discriminant validity and the facet scales displayed validity in predicting outcomes.
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Estudiantes , Humanos , Reproducibilidad de los Resultados , México , Universidades , Inventario de Personalidad , PsicometríaRESUMEN
Bifidobacteria have been investigated due to their mutualistic microbe-host interaction with humans throughout their life. This work aims to make a biochemical and genomic characterization of Bifidobacterium pseudocatenulatum JCLA3. By multilocus analysis, the species of B. pseudocatenulatum JCLA3 was established as pseudocatenulatum. It contains one circular genome of 2,369,863 bp with G + C content of 56.6%, no plasmids, 1937 CDSs, 54 tRNAs, 16 rRNAs, 1 tmRNA, 1 CRISPR region, and 401 operons predicted, including a CRISPR-Cas operon; it encodes an extensive number of enzymes, which allows it to utilize different carbohydrates. The ack gene was found as part of an operon formed by xfp and pta genes. Two genes of ldh were found at different positions. Chromosomally encoded resistance to ampicillin and cephalothin, non-hemolytic activity, and moderate inhibition of Escherichia coli ATCC 25922 and Staphylococcus aureus ATCC 6538 were demonstrated by B. pseudocatenulatum JCLA3; it can survive 100% in simulated saliva, can tolerate primary and secondary glyco- or tauro-conjugated bile salts but not in a mix of bile; the strain did not survive at pH 1.5-5. The cbh gene coding to choloylglycine hydrolase was identified in its genome, which could be related to the ability to deconjugate secondary bile salts. Intact cells showed twice as much antioxidant activity than debris. B. pseudocatenulatum JCLA3 showed 49% of adhesion to Caco-2 cells. The genome and biochemical analysis help to elucidate further possible biotechnological applications of B. pseudocatenulatum JCLA3.
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Resumen El mejoramiento genético en plantas permite incrementar el rendimiento, productividad y resistencia al estrés al modificar el genotipo de la progenie. El objetivo del presente trabajo fue revisar los criterios de selección que apoyen la implementación de programas de mejoramiento genético de Moringa oleifera enfocados en producción y resistencia al estrés. La polinización de esta planta es principalmente abierta, lo que dificulta mantener progresos en su genotipo. Lo recomendable es establecer cruzamientos entre ejemplares con características superiores. Los principales caracteres que muestran diversidad y deben ser empleados como criterio de selección son el diámetro del tronco, número de flores por inflorescencia, longitud y peso del fruto, aunque también algunas características foliares como mayor cantidad de follaje y mejor calidad nutritiva, podrían constituir un criterio positivo de selección. Los marcadores AFLP, RAPD, SSR y citocromo P450 se han empleado para estudiar su variabilidad genética. Los criterios morfológicos y los marcadores moleculares se muestran relacionados y, por lo tanto, se complementan. Los mayores vacíos de información están relacionados con la arquitectura del sistema radical, el flujo de polen según los genotipos y los mecanismos de resistencia contra el estrés biótico.
Abstract Genetic improvement in plants can increase yield, productivity and resistance to stress by modifying the genotype of the progeny. The objective of the present work was to review selection criteria to support the implementation of breeding programs focused on yield and stress resistance. The pollination is mainly open, which makes it difficult to maintain the improvements in its genotype. It is advisable to establish crosses between specimens with superior characteristics. The main characters that show diversity and should be used as selection criteria are the trunk diameter, number of flowers per inflorescence, fruit length and weight, although also some foliar characteristics could constitute a positive selection criterion. AFLP, RAPD, SSR and cytochrome P450 markers have been used to study its genetic variability. Morphological criteria molecular markers are related and, therefore, complement each other. The major research gaps are related to the architecture of the root system, the pollen flow according to genotypes and resistance mechanisms against biotic stress.
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Encephaloceles are congenital malformations of the neural tube, mostly located in the occipital region in the Western world. Its presence is related to many complications, among which cognitive impairment and death are the most important. The diagnosis is usually made in the prenatal period, but sometimes due to poor control, this is not feasible. Surgery is required as early as possible to prevent further damage. Sometimes we can face complications related to the procedure, such as wound dehiscence, which has been the aim of this work. Many different types of treatments have been proposed for this complication: nevertheless, they result in invasive management. We present the case of a neonate's wound dehiscence, managed with potable water washes and a correct sterile technique, shown to be safe, reduce the in-patient costs, as well as improve the patient's and their family's quality of life (QoL).
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Association between cerebral aneurysms and sellar tumors has been previously reported. Rupture of anterior circulation aneurysms during a transsphenoidal surgery causing massive subarachnoid hemorrhage (SAH) is uncommon, but rupture of a posterior circulation aneurysm is an infrequent event. We present three cases of SAH secondary to rupture of an undetected posterior circulation aneurysm during transsphenoidal surgery to treat a sellar tumor. The common factor in these cases was the adverse outcome despite treatment. The fatal outcome seen in all these cases questions whether to include a (magnetic resonance) MR angiography or (computed tomography) CT angiography during preoperative evaluation for sellar tumors in order to identify inadvertently associated aneurysms.
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Hypothalamic cavernous malformation (HCM) is rare, and to our knowledge, there are only 28 cases reported in the literature. An 18-year-old male presented two years ago with a severe headache followed by right eye blindness. Following imaging studies, a bleeding hypothalamic cavernoma was discovered together with another incidental cavernoma in the brain. We sustained the diagnosis of cavernomatosis, and conservative treatment was indicated. A year later, he presented severe headache and vomit; for this reason, the patient underwent a new MRI which showed a new bleeding episode of the HCM lesion. We carried out an endocrinological assessment, and microsurgical resection was recommended. Although visual impairment persisted as expected in the postoperative period, he showed good clinical recovery overall. Hypothalamic location of a cavernous malformation is infrequent, accounting for only 1% or less of these lesions, and are known to cause a variety of symptoms inducing headache, visual disturbance, and less frequently, hypothalamus dysfunction. Surgical intervention can be considered after a second symptomatic bleed, always assessing the risk of non-favorable postsurgical outcomes against the intrinsic risk that these malformations imply. Case reports like this are essential to reach a consensus towards the best treatment option for HCM.
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This article outlines the Phase 1 efforts of the HiTOP Measure Development group for externalizing constructs, which include disinhibited externalizing, antagonistic externalizing, attention deficit hyperactivity disorder, substance use, and externalizing/maladaptive behaviors. We provide background on the constructs included and the process and issues involved in developing a measure for this diverse range of psychopathology symptoms, traits, and behaviors.
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Trastorno por Déficit de Atención con Hiperactividad , Problema de Conducta , Trastornos Relacionados con Sustancias , Humanos , PsicopatologíaRESUMEN
Host immune response and virulence factors are key to disease susceptibility. However, there are no known association studies of human leukocyte antigen (HLA) class I and II alleles with chikungunya virus (CHIKV) infection in the Latin American population. Here, we aimed to identify HLA alleles present in patients with CHIKV infection versus healthy controls as well as the allelic association with the clinical spectrum of the disease. We conducted a cross-sectional analysis of a community cohort and included patients aged 18 years and older with serologically confirmed CHIKV infection. HLA typing of HLA-A, HLA-B, and HLA-DRB1 alleles was performed. Two-by-two tables were used to establish associations between allele presence and clinical characteristics. Data from 65 patients with confirmed CHIKV infection were analyzed for HLA typing. CHIKV infection was significantly associated with the presence of HLA-A*68 [p = .005; odds ratio (OR): 8.90; 95% confidence interval (CI): 1.88-42.13], HLA-B*35 (p = .03; OR: 2.01; 95% CI: 1.06-3.86), HLA-DRB*01 (p <.001; OR: 5.70; 95% CI: 1.95-16.59), HLA-DRB1*04 (p <.001; OR: 7.37; 95% CI: 3.33-16.30), and HLA-DRB1*13 (p = .004; OR: 3.75; 95% CI: 1.50-9.39) alleles in patients versus healthy subjects. A statistically significant relationship was found between the presence of a rash on the face or abdomen and the presence of HLA-DRB1*04 (p = .028; OR: 3.2; 95% CI: 1.11-9.15 and p = .007; OR: 4.33; 95% CI: 1.45-12.88, respectively). Our study demonstrated that, in our cohort, HLA type I and type II alleles are associated with CHIKV infection, and an HLA type II allele is associated with dermatological symptoms. Further research is needed to establish a path for future investigation of genes outside the HLA system to improve knowledge of the pathophysiology of CHIKV infection and its host-pathogen interaction.
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Fiebre Chikungunya , Predisposición Genética a la Enfermedad , Antígenos HLA-A , Antígenos HLA-B , Cadenas HLA-DRB1 , Alelos , Fiebre Chikungunya/genética , Estudios Transversales , Frecuencia de los Genes , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Cadenas HLA-DRB1/genética , HumanosRESUMEN
Dexamethasone (DXM) and methylprednisolone (MEP) are potent glucocorticoids used to control several inflammatory conditions. Evidence of delayed DXM reaching the central nervous system (CNS) as well as tachyphylaxis and systemic, undesirable side effects are the main limitations of peripheral delivery. Intranasal administration offers direct access to the brain as it bypasses the blood-brain barrier. The Mucosal Atomization Device is an optimal tool that can achieve rapid absorption into the CNS and the bloodstream across mucosal membranes. This study was designed to evaluate and compare the bioavailability of DXM and MEP after intranasal versus intravenous administration. Two open-label, balanced, randomized, two-treatment, two-period, two-sequence, single-dose, crossover studies were conducted, which involved healthy male and female adult volunteers. After intranasal administration, DXM and MEP were detected in plasma after the first sampling time. Mean peak concentrations of DXM and MEP were 86.61 ng/mL at 60 min and 843.2 ng/mL at 1.5 h post-administration, respectively. DXM and MEP showed high absolute bioavailability, with values of 80% and 95%, respectively. No adverse effects were observed. DXM and MEP systemic bioavailability by intranasal administration was comparable with the intravenous one, suggesting that the intranasal route can be used as a non-invasive and appropriate alternative for systemic drug delivery.
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Despite being bio-epidemiological phenomena, the causes and effects of pandemics are culturally influenced in ways that go beyond national boundaries. However, they are often studied in isolated pockets, and this fact makes it difficult to parse the unique influence of specific cultural psychologies. To help fill in this gap, the present study applies existing cultural theories via linear mixed modeling to test the influence of unique cultural factors in a multi-national sample (that moves beyond Western nations) on the effects of age, biological sex, and political beliefs on pandemic outcomes that include adverse financial impacts, adverse resource impacts, adverse psychological impacts, and the health impacts of COVID. Our study spanned 19 nations (participant N = 14,133) and involved translations into 9 languages. Linear mixed models revealed similarities across cultures, with both young persons and women reporting worse outcomes from COVID across the multi-national sample. However, these effects were generally qualified by culture-specific variance, and overall more evidence emerged for effects unique to each culture than effects similar across cultures. Follow-up analyses suggested this cultural variability was consistent with models of pre-existing inequalities and socioecological stressors exacerbating the effects of the pandemic. Collectively, this evidence highlights the importance of developing culturally flexible models for understanding the cross-cultural nature of pandemic psychology beyond typical WEIRD approaches.
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OBJECTIVE: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features. DESIGN: Descriptive retrospective study. SETTING: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years. PARTICIPANTS: No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study. RESULTS: Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population. CONCLUSIONS: In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.
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Labio Leporino , Fisura del Paladar , Labio Leporino/epidemiología , Labio Leporino/genética , Labio Leporino/cirugía , Fisura del Paladar/epidemiología , Fisura del Paladar/genética , Fisura del Paladar/cirugía , Colombia/epidemiología , Femenino , Humanos , Madres , Embarazo , Estudios RetrospectivosRESUMEN
Neuroinflammation (NI) is an important physiologic process which promotes the tissue repair and homeostatic maintenance in the central nervous system after different types of insults. However, when it is exacerbated and sustained in time, NI plays a critical role in the pathogenesis of different neurologic diseases. The high systemic doses required for brain-specific targeting lead to severe undesirable effects. The intranasal (IN) route has been proposed as an alternative drug administration route for a better NI control. Herein, the brain biodistribution of intranasally administered dexamethasone versus intravenously administered one is reported. A higher amount of dexamethasone was found in every analyzed region of those brains of intranasally administered mice. HPLC analysis also revealed that IN administration allows Dex to arrive faster and in a greater concentration to the brain in comparison with intravenous administration, data confirmed by immunofluorescence and HPLC analysis. These data support the proposal of the IN administration of Dex as an alternative for a more efficient control of NI. SIGNIFICANCE STATEMENT: This work highlights the biodistribution of dexamethasone after its intranasal administration. Intranasal administration allows for a faster arrival, better distribution, and a higher concentration of the drug within the brain compared to its intravenous administration. These results explain some of the evidence shown in a previous work in which dexamethasone controls neuroinflammation in a murine stroke model and can be used to propose alternative treatments for neuroinflammatory diseases.