ABSTRACT
INTRODUCTION: This study investigates primary lateral sclerosis (PLS) as a rare manifestation of the presenilin 1 (PSEN1) NM_000021 c.851C > T p.Pro284Leu variant in three siblings of a Colombian family, outlining its clinical and neuropathological features and their relationship to Alzheimer's disease (AD). METHODS: Data were gathered using clinical evaluations, next-generation genetic sequencing, magnetic resonance imaging, biomarker analysis, and neuropathological examination. RESULTS: Carriers of the PSEN1 Pro284Leu variant exhibited classic PLS symptoms, including unilateral onset and bulbar syndromes, along with cognitive decline. Neuropathology showed corticospinal tract degeneration without amyloid beta deposition in spinal white matter. DISCUSSION: Our findings suggest an overlap between PLS and AD pathology in PSEN1 variant carriers. Results support considering PLS when diagnosing AD-related motor syndromes and including PSEN1 evaluation when performing genetic testing for PLS. The study highlights the need for further research to clarify the PLS-AD relationship, informing future treatments and clinical trials. HIGHLIGHTS: Pathogenic variants in presenilin 1 (PSEN1) can manifest as hereditary primary lateral sclerosis PSEN1 Pro284Leu carriers present motor, cognitive, and behavioral alterations Cases had corticospinal tract microgliosis and severe Aß pathology in motor cortex There was no evidence of amyloid deposition in the spinal cord white matter All the neuropathology images are available for online visualization Myelin pallor in the spinal cord is confined to the lateral corticospinal tracts.
Subject(s)
Alzheimer Disease , Presenilin-1 , Humans , Presenilin-1/genetics , Colombia , Female , Male , Middle Aged , Alzheimer Disease/genetics , Alzheimer Disease/pathology , Magnetic Resonance Imaging , Aged , Brain/pathology , Brain/diagnostic imaging , AdultABSTRACT
BACKGROUND: Variants in APOE and PSEN1 (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer's disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer's disease caused by the PSEN1 E280A variant who also had two copies of the apolipoprotein E3 Christchurch variant (APOE3 Ch). Heterozygosity for the APOE3 Ch variant may influence the age at which the onset of cognitive impairment occurs. We assessed this hypothesis in a population in which the PSEN1 E280A variant is prevalent. METHODS: We analyzed data from 27 participants with one copy of the APOE3 Ch variant among 1077 carriers of the PSEN1 E280A variant in a kindred from Antioquia, Colombia, to estimate the age at the onset of cognitive impairment and dementia in this group as compared with persons without the APOE3 Ch variant. Two participants underwent brain imaging, and autopsy was performed in four participants. RESULTS: Among carriers of PSEN1 E280A who were heterozygous for the APOE3 Ch variant, the median age at the onset of cognitive impairment was 52 years (95% confidence interval [CI], 51 to 58), in contrast to a matched group of PSEN1 E280A carriers without the APOE3 Ch variant, among whom the median age at the onset was 47 years (95% CI, 47 to 49). In two participants with the APOE3 Ch and PSEN1 E280A variants who underwent brain imaging, 18F-fluorodeoxyglucose positron-emission tomographic (PET) imaging showed relatively preserved metabolic activity in areas typically involved in Alzheimer's disease. In one of these participants, who underwent 18F-flortaucipir PET imaging, tau findings were limited as compared with persons with PSEN1 E280A in whom cognitive impairment occurred at the typical age in this kindred. Four studies of autopsy material obtained from persons with the APOE3 Ch and PSEN1 E280A variants showed fewer vascular amyloid pathologic features than were seen in material obtained from persons who had the PSEN1 E280A variant but not the APOE3 Ch variant. CONCLUSIONS: Clinical data supported a delayed onset of cognitive impairment in persons who were heterozygous for the APOE3 Ch variant in a kindred with a high prevalence of autosomal dominant Alzheimer's disease. (Funded by Good Ventures and others.).
Subject(s)
Alzheimer Disease , Apolipoprotein E3 , Presenilin-1 , Adult , Aged , Female , Humans , Male , Middle Aged , Age of Onset , Alzheimer Disease/diagnosis , Alzheimer Disease/diagnostic imaging , Alzheimer Disease/genetics , Alzheimer Disease/pathology , Apolipoprotein E3/genetics , Brain/pathology , Brain/diagnostic imaging , Colombia , Family , Genes, Dominant , Heterozygote , Positron-Emission Tomography , Presenilin-1/genetics , Retrospective StudiesABSTRACT
ABSTRACT Introduction: Mild Cognitive Impairment (MCI) is common in Parkinson's Disease (PD). Few studies have compared the Health-Related Quality of Life (HRQoL) in patients with and without MCI due to PD (PD-MCI), and its correlation to patients' subjective cognitive and communicative difficulties has not been explored. Objective: We aimed to compare HRQoL in PD-MCI and PD without MCI (PD-nMCI), and explore its possible relationship to subjective cognitive and communicative complaints. Methods: We included 29 PD-nMCI and 11 PD-MCI patients. The HRQoL was assessed with the Parkinson's Disease Questionnaire-39 (PDQ-39): its Cognition dimension was used as a measure of subjective cognitive complaints, its Communication dimension for subjective communicative complaints, and the summary index (PDQ-39 SI) as an indicator of HRQoL. Non-parametric partial correlations between the Cognition and Communication dimensions, and the adjusted PDQ-39 SI were conducted. Results: PD-MCI patients had greater subjective cognitive and communicative complaints and worse HRQoL than PD-nMCI patients. In the PD-MCI group, both subjective cognitive and communicative complaints exhibited significant direct correlations with the adjusted HRQoL scores. Conclusions: HRQoL seems to be affected in PD-MCI, and it might be influenced by greater subjective cognitive and communicative complaints. Including patient-reported outcome measures of HRQoL, and providing cognitive and speech rehabilitation, as well as psy-chotherapeutic strategies to face these deficits can enhance the patient-centred approach in PD.
RESUMEN Introducción: El deterioro cognitivo leve (DCL) es frecuente en la enfermedad de Parkinson (EP). Pocos estudios han comparado la calidad de vida relacionada con la salud (CVRS) en pacientes con DCL debido a EP (EP-DCL) sin explorar la relación entre la CVRS y las quejas subjetivas cognitivas y comunicativas de los pacientes. Objetivo: Comparar la CVRS en EP-DCL y EP sin DCL (EP-nDCL) explorando sus posibles relaciones con las quejas subjetivas cognitivas y comunicativas. Métodos: Se incluyó a 29 EP-DCL y 11 EP-nDCL. La CVRS se evaluó con el cuestionario PDQ-39: su dimensión Cognición se usó como medida de las quejas subjetivas cognitivas; su dimensión Comunicación, como medida de las quejas subjetivas comunicativas y su puntuación resumen (PDQ-39 SI), como indicador de CVRS. Se realizaron correlaciones parciales no paramétricas entre el PDQ-39 SI ajustado y las dimensiones Cognición y Comunicación. Resultados: Los pacientes EP-DCL presentaron una peor CVRS y mayores quejas subjetivas cognitivas y comunicativas. En el grupo EP-DCL, tanto las quejas subjetivas cognitivas como las comunicativas mostraron correlaciones directas significativas con la puntuación de CVRS ajustada. Conclusiones: La CVRS de los pacientes con EP-DCL parece estar afectada e influida por las quejas subjetivas en cognición y comunicación. Incluir los resultados de CVRS reportados por los pacientes, proveer rehabilitación cognitiva y del lenguaje y estrategias de psicoterapia para afrontar dicho déficit podrían mejorar el abordaje centrado en el paciente en la EP.
ABSTRACT
The cotton boll weevil (CBW) (Anthonomus grandis) is one of the major insect pests of cotton in Brazil. Currently, CBW control is mainly achieved by insecticide application, which is costly and insufficient to ensure effective crop protection. RNA interference (RNAi) has been used in gene function analysis and the development of insect control methods. However, some insect species respond poorly to RNAi, limiting the widespread application of this approach. Therefore, nanoparticles have been explored as an option to increase RNAi efficiency in recalcitrant insects. Herein, we investigated the potential of chitosan-tripolyphosphate (CS-TPP) and polyethylenimine (PEI) nanoparticles as a dsRNA carrier system to improve RNAi efficiency in the CBW. Different formulations of the nanoparticles with dsRNAs targeting genes associated with juvenile hormone metabolism, such as juvenile hormone diol kinase (JHDK), juvenile hormone epoxide hydrolase (JHEH), and methyl farnesoate hydrolase (MFE), were tested. The formulations were delivered to CBW larvae through injection (0.05-2 µg), and the expression of the target genes was evaluated using RT-qPCR. PEI nanoparticles increased targeted gene silencing compared with naked dsRNAs (up to 80%), whereas CS-TPP-dsRNA nanoparticles decreased gene silencing (0%-20%) or led to the same level of gene silencing as the naked dsRNAs (up to 50%). We next evaluated the effects of targeting a single gene or simultaneously targeting two genes via the injection of naked dsRNAs or dsRNAs complexed with PEI (500 ng) on CBW survival and phenotypes. Overall, the gene expression analysis showed that the treatments with PEI targeting either a single gene or multiple genes induced greater gene silencing than naked dsRNA (â¼60%). In addition, the injection of dsJHEH/JHDK, either naked or complexed with PEI, significantly affected CBW survival (18% for PEI nanoparticles and 47% for naked dsRNA) and metamorphosis. Phenotypic alterations, such as uncompleted pupation or malformed pupae, suggested that JHEH and JHDK are involved in developmental regulation. Moreover, CBW larvae treated with dsJHEH/JHDK + PEI (1,000 ng/g) exhibited significantly lower survival rate (55%) than those that were fed the same combination of naked dsRNAs (30%). Our findings demonstrated that PEI nanoparticles can be used as an effective tool for evaluating the biological role of target genes in the CBW as they increase the RNAi response.
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INTRODUCTION: Plasma-measured tau phosphorylated at threonine 217 (p-tau217) is a potential non-invasive biomarker of Alzheimer's disease (AD). We investigated whether plasma p-tau217 predicts subsequent cognition and positron emission tomography (PET) markers of pathology in autosomal dominant AD. METHODS: We analyzed baseline levels of plasma p-tau217 and its associations with amyloid PET, tau PET, and word list delayed recall measured 7.61 years later in non-demented age- and education-matched presenilin-1 E280A carriers (n = 24) and non-carrier (n = 20) family members. RESULTS: Carriers had higher plasma p-tau217 levels than non-carriers. Baseline plasma p-tau217 was associated with subsequent amyloid and tau PET pathology levels and cognitive function. DISCUSSION: Our findings suggest that plasma p-tau217 predicts subsequent brain pathological burden and memory performance in presenilin-1 E280A carriers. These results provide support for plasma p-tau217 as a minimally invasive diagnostic and prognostic biomarker for AD, with potential utility in clinical practice and trials. HIGHLIGHTS: Non-demented presenilin-1 E280A carriers have higher plasma tau phosphorylated at threonine 217 (p-tau217) than do age-matched non-carriers. Higher baseline p-tau217 is associated with greater future amyloid positron emission tomography (PET) pathology burden. Higher baseline p-tau217 is associated with greater future tau PET pathology burden. Higher baseline p-tau217 is associated with worse future memory performance.
Subject(s)
Alzheimer Disease , Humans , Alzheimer Disease/diagnostic imaging , Alzheimer Disease/genetics , Amyloid/metabolism , Amyloid beta-Peptides/metabolism , Amyloidogenic Proteins , Biomarkers , Brain/pathology , Cognition , Positron-Emission Tomography/methods , Presenilin-1/genetics , tau Proteins/metabolismABSTRACT
Cotton is the most important crop for fiber production worldwide. However, the cotton boll weevil (CBW) is an insect pest that causes significant economic losses in infested areas. Current control methods are costly, inefficient, and environmentally hazardous. Herein, we generated transgenic cotton lines expressing double-stranded RNA (dsRNA) molecules to trigger RNA interference-mediated gene silencing in CBW. Thus, we targeted three essential genes coding for chitin synthase 2, vitellogenin, and ecdysis-triggering hormone receptor. The stability of expressed dsRNAs was improved by designing a structured RNA based on a viroid genome architecture. We transformed cotton embryos by inserting a promoter-driven expression cassette that overexpressed the dsRNA into flower buds. The transgenic cotton plants were characterized, and positive PCR transformed events were detected with an average heritability of 80%. Expression of dsRNAs was confirmed in floral buds by RT-qPCR, and the T1 cotton plant generation was challenged with fertilized CBW females. After 30 days, data showed high mortality (around 70%) in oviposited yolks. In adult insects fed on transgenic lines, chitin synthase II and vitellogenin showed reduced expression in larvae and adults, respectively. Developmental delays and abnormalities were also observed in these individuals. Our data remark on the potential of transgenic cotton based on a viroid-structured dsRNA to control CBW.
Subject(s)
Weevils , Humans , Animals , Weevils/genetics , RNA, Double-Stranded/genetics , RNA, Double-Stranded/metabolism , Gossypium/genetics , Gossypium/metabolism , Vitellogenins/genetics , Plants, Genetically Modified/genetics , Plants, Genetically Modified/metabolismABSTRACT
The root-knot nematode (RKN), Meloidogyne incognita, is a devastating soybean pathogen worldwide. The use of resistant cultivars is the most effective method to prevent economic losses caused by RKNs. To elucidate the mechanisms involved in resistance to RKN, we determined the proteome and transcriptome profiles from roots of susceptible (BRS133) and highly tolerant (PI 595099) Glycine max genotypes 4, 12, and 30 days after RKN infestation. After in silico analysis, we described major defense molecules and mechanisms considered constitutive responses to nematode infestation, such as mTOR, PI3K-Akt, relaxin, and thermogenesis. The integrated data allowed us to identify protein families and metabolic pathways exclusively regulated in tolerant soybean genotypes. Among them, we highlighted the phenylpropanoid pathway as an early, robust, and systemic defense process capable of controlling M. incognita reproduction. Associated with this metabolic pathway, 29 differentially expressed genes encoding 11 different enzymes were identified, mainly from the flavonoid and derivative pathways. Based on differential expression in transcriptomic and proteomic data, as well as in the expression profile by RT-qPCR, and previous studies, we selected and overexpressed the GmPR10 gene in transgenic tobacco to assess its protective effect against M. incognita. Transgenic plants of the T2 generation showed up to 58% reduction in the M. incognita reproduction factor. Finally, data suggest that GmPR10 overexpression can be effective against the plant parasitic nematode M. incognita, but its mechanism of action remains unclear. These findings will help develop new engineered soybean genotypes with higher performance in response to RKN infections.
ABSTRACT
Abstract In Colombia, the prevalence of intestinal parasitosis varies throughout its regions, social classes, and living conditions. We performed a cohort study (2017-2018) on children from 1-10 years old in El Cedro, Ayapel, Colombia. We tested a convenience sampling of those who accepted and signed the consent form. The National Intestinal Parasite Survey was applied; feces and water source sampling were tested for coprological and microbiology analysis, respectively. Education and pharmacologic treatment to the minor and co-inhabitants were performed. After the recruiting, we followed up at 7 and 12 months. Statistical analysis was performed using IBM® SPSS22. Participants 47, 61,7% male, average age 5,7 years. The caretakers had a low educational background. The monthly income of 72,3% of households was < USD 87. The coprological test showed 61,7% with at least one type of parasite; 32,2% with two or more. Trichuris trichiura was the most frequent. Water sources were positive for Escherichia coli. The population tested showed a high frequency of parasitic infection. We did not find a reduction of intestinal parasitosis with educa tion and pharmacologic treatment at the end of the follow-up. It must be necessary to impact social determinants of public health to achieve intestinal parasitosis control.
Resumen En Colombia, la prevalencia de parasitosis intestinal varía por regiones, clases sociales, condiciones de vida. Realizamos estudio de cohorte (2017-2018) en niños de 1-10 años en El Cedro, Ayapel, Colombia. Muestra por conveniencia, se incluyeron aquellos que aceptaron y firmaron el consentimiento. Se aplicó la Encuesta Nacional de Parásitos Intestinales; se analizaron muestras de heces y fuentes de agua para análisis coprológico y microbiológico, respectivamente. Se realizó educación y tratamiento farmacológico al menor y cohabitantes. Después del reclutamiento, seguimiento a los 7 y 12 meses. El análisis estadístico se realizó con IBM® SPSS22. Participantes 47, 61,7% hombres, promedio de edad 5,7 años. Cuidadores con bajo nivel educativo, ingreso mensual del 72,3% de los hogares fue <USD 87. La población analizada mostró una alta frecuencia de infección parasitaria, un 61,7% con al menos un tipo de parásito; 32,2% con dos o más. Trichuris trichiura fue el más frecuente. Las fuentes de agua fueron positivas para Escherichia coli. Al final del seguimiento, no se redujo la frecuencia de la parasitosis intestinal a pesar de educación y tratamiento farmacológico. Se requiere incidir en los determinantes sociales y de salud pública para lograr el control de las parasitosis intestinales.
ABSTRACT
Hereditary ataxias are a group of devastating neurological disorders that affect coordination of gait and are often associated with poor coordination of hands, speech, and eye movements. Ataxia with ocular apraxia type 1 (AOA1) (OMIM: 606,350.0006) is characterized by slowly progressive symptoms of childhood-onset and pathogenic mutations in APTX; the only known cause underpinning AOA1. APTX encodes the protein aprataxin, composed of three domains sharing homology with proteins involved in DNA damage, signaling, and repair. We present four siblings from an endogamic family in a rural, isolated town of Colombia with ataxia and ocular apraxia of childhood-onset and confirmed molecular diagnosis of AOA1, homozygous for the W279* p.Trp279Ter mutation. We predicted the mutated APTX with AlphaFold to demonstrate the effects of this stop-gain mutation that deletes three beta helices encoded by amino acid 270 to 339 rescinding the C2H2-type zinc fingers (Znf) (C2H2 Znf) DNA-binding, the DNA-repair domain, and the whole 3D structure of APTX. All siblings exhibited different ages of onset (4, 6, 8, and 11 years old) and heterogeneous patterns of dysarthria (ranging from absence to mild-moderate dysarthria). Neuropsychological evaluation showed no neurocognitive impairment in three siblings, but one sibling showed temporospatial disorientation, semantic and phonologic fluency impairment, episodic memory affection, constructional apraxia, moderate anomia, low executive function, and symptoms of depression. To our knowledge, this report represents the most extensive series of siblings affected with AOA1 in Latin America, and the genetic analysis completed adds important knowledge to outline this family's disease and general complex phenotype of hereditary ataxias.
Subject(s)
Apraxias , Cerebellar Ataxia , Spinocerebellar Degenerations , Apraxias/complications , Apraxias/genetics , Ataxia/complications , Ataxia/genetics , Colombia , DNA , DNA-Binding Proteins/genetics , Dysarthria/complications , Humans , Mutation/genetics , Nuclear Proteins/genetics , Phenotype , Siblings , Spinocerebellar Degenerations/complicationsABSTRACT
PURPOSE: The present study aims to explore the association between the quality of life (QoL) score and the clinical and sociodemographic variables in patients with the PSEN1-E280A mutation. We also seek to evaluate the differences between the QoL reported by the patients (P-QoL) and the scores reported by the caregivers (C-QoL). METHODS: An analysis of 75 patients with the PSEN1-E280A mutation with mild cognitive impairment and dementia was performed. We used the Quality of Life in Alzheimer Disease (QoL-AD) survey to evaluate QoL as an outcome and evaluated its association with sociodemographic, lifestyle, clinical, and past medical history variables. RESULTS: The largest difference in the median of the QoL-AD score was in those who needed help to eat, those with moderate or severe dementia, those classified as frail or pre-frail, those with moderate social risk, and those with depression. Also, C-QoL was lower than the P-QoL, and the QoL-AD of individuals with severe dementia was lower than for milder forms of the disease. Not needing help to eat, not having a stressful situation in the past 3 months, and the years of education were positively correlated with QoL-AD in the linear model. CONCLUSION: As studies in similar populations with AD, factors with more impact on QoL are those related to loss of functionality and independence. These factors are also associated with variables related to the current literature with the burden of the disease for the caregivers.
Subject(s)
Alzheimer Disease , Quality of Life , Alzheimer Disease/genetics , Caregivers , Humans , Mutation/genetics , Presenilin-1/geneticsABSTRACT
RNA interference (RNAi)-mediated gene silencing can be used to control specific insect pest populations. Unfortunately, the variable efficiency in the knockdown levels of target genes has narrowed the applicability of this technology to a few species. Here, we examine the current state of knowledge regarding the miRNA (micro RNA) and siRNA (small interfering RNA) pathways in insects and investigate the structural variability at key protein domains of the RNAi machinery. Our goal was to correlate domain variability with mechanisms affecting the gene silencing efficiency. To this end, the protein domains of 168 insect species, encompassing the orders Coleoptera, Diptera, Hemiptera, Hymenoptera, and Lepidoptera, were analysed using our pipeline, which takes advantage of meticulous structure-based sequence alignments. We used phylogenetic inference and the evolutionary rate coefficient (K) to outline the variability across domain regions and surfaces. Our results show that four domains, namely dsrm, Helicase, PAZ and Ribonuclease III, are the main contributors of protein variability in the RNAi machinery across different insect orders. We discuss the potential roles of these domains in regulating RNAi-mediated gene silencing and the role of loop regions in fine-tuning RNAi efficiency. Additionally, we identified several order-specific singularities which indicate that lepidopterans have evolved differently from other insect orders, possibly due to constant coevolution with plants and viruses. In conclusion, our results highlight several variability hotspots that deserve further investigation in order to improve the application of RNAi technology in the control of insect pests.
Subject(s)
Gene Silencing , Insect Proteins/metabolism , Insecta/classification , Insecta/genetics , MicroRNAs/genetics , RNA Interference , RNA, Small Interfering/genetics , Animals , Insect Proteins/genetics , Insecta/metabolism , Phylogeny , Protein DomainsABSTRACT
Resumen La pandemia de COVID-19 ha llevado a la implementación del aislamiento preventivo como medida de salud pública y con esto, se presentan nuevos retos para las instituciones de educación superior y en especial para carreras con alto contenido presencial. Se realizó una revisión de la literatura en Pubmed en conjunto con textos de referencia en educación virtual, educación médica, opiniones de expertos y artículos derivados de estos por método bola de nieve. Las ventajas de la educación médica virtual hacen alusión, en su mayoría, a la flexibilidad en tiempo, espacios, oportunidades y recursos desde un enfoque individualizado. Las desventajas, por su parte, dependen de la falta de preparación en infraestructura, así como por parte de docentes y estudiantes para las nuevas modalidades. Las recomendaciones se basan en un cambio de estrategia en el que el estudiante pueda abordar los contenidos de forma amigable y resumida previo a las clases en-vivo y que estas últimas tengan un enfoque dirigido a la complementación y resolución de dudas. Se presentan recomendaciones para los docentes que actualmente dictan sus contenidos de manera virtual para favorecer el aprendizaje y cumplimiento de objetivos. Se incluye un anexo con herramientas para el desarrollo de clases y otros contenidos útiles para el estudio de temas en distintas áreas.
Abstract The COVID-19 pandemic has led to the implementation of preventive isolation as a public health measure and with these new challenges are presented for higher education institutions and especially for careers with high attendance content. A literature review was conducted in Pubmed in conjunction with reference texts in virtual education, medical education, expert opinions and articles derived from these by the snowball method. The advantages of virtual medical education mostly refer to flexibility in time, space, opportunities and resources from an individualized approach. The disadvantages, on the other hand, depend on the lack of preparation in infrastructure, as well as by teachers and students for the new modalities. The recommendations are based on a change of strategy in which the student can approach the contents in a friendly and summarized way prior to the live classes and that the latter have a focus directed to the complementation and resolution of doubts. Recommendations are presented for teachers who currently teach their contents in a virtual way to favour learning and the fulfilment of objectives. An annex is included with tools for the development of classes and other useful content for the study of topics in different areas.
ABSTRACT
Resumen Objetivo: Comprender las dinámicas mediante las cuales los pacientes significan su experiencia de la depresión. Metodología: Se utilizó una metodología cualitativa, basada en la Teoría Fundamentada. Se realizaron entrevistas semiestructuradas a 10 pacientes diagnosticados de un trastorno del ánimo con episodio depresivo, por el que habían estado en tratamiento psicoterapéutico previamente. Las entrevistas fueron analizadas desde un enfoque descriptivo-relacional, para reconocer las principales unidades temáticas referidas por los participantes y luego identificar sus relaciones y significados subyacentes. Resultados: El significado de la experiencia de la depresión se reveló como un proceso denominado "Construcción subjetiva de la experiencia de la depresión", caracterizado por tres momentos. (1) "La experiencia de un malestar sin nombre"; (2) "Anclaje de la experiencia del paciente en la palabra depresión"; (3) "Apropiación de la experiencia de la depresión". Conclusión: la experiencia de la depresión se presenta como un proceso dinámico de interacción entre el malestar subjetivo y la construcción de significados asociados a él; transitando de una experiencia desconcertante observada en el cuerpo, el ánimo y/o lo conductual, hacia una experiencia elaborable discursivamente, a través de una referencia semántica (depresión) que integra los significados y origina un proceso de apropiación de lo que implica para cada individuo tener depresión o estar deprimido.
Abstract Objective: To understand the dynamics by which patients signify their depressive experience. Methodology: A qualitative methodology was used, based on the Grounded Theory. Semi-structured interviews were conducted with 10 patients diagnosed with a mood disorder with depressive episode, who had been in a psychotherapy treatment about it. The interviews were analyzed from a descriptive-relational approach, recognizing the main thematic units referred by the participants, and then identifying their relationships and underlying meanings. Results: The meaning of "depression" experience was revealed as a process, named "subjective construction of depression experience", characterized by three moments: (1) "The experience of an unnamed discomfort"; (2) "Anchoring the patient's experience in the word depression"; (3) "Appropriation of depression experience". Conclusion: The depressive experience is presented as a dynamic process of interaction between subjective discomfort and the construction of meanings associated to it. Transitioning from a disconcerting experience observed on their body, mood, and/or their behaviour, to something available to be elaborated discursively, through a semantic reference (depression) that integrates them, originates a process of appropriation about what it implies for each individual to be depressed or have depression.
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INTRODUCTION: Gait speed (GS) is a predictor of negative outcomes in older adults and in those in risk to develop cognitive impairment; as such, it has been associated with dementia. Studies in Latin-American older adults showing this association are scarce. This study aimed to evaluate the relationship between GS and dementia in a representative sample of Colombian older adults. METHODS: This study is a secondary analysis from the Survey on Health, Well-Being, and Aging, SABE (from initials in Spanish: Salud, Bienestar & Envejecimiento) Colombia's survey conducted in 2015 with a sample of 23,694 elderly adults aged 60 years or older. RESULTS: A total of 19,470 participants from the SABE Colombia survey were available for analysis. The multivariate analysis shows that dementia was associated with slow GS (PR 2.39; CI 1.91-3.01) independently to the other variables (p < 0.001). Similarly, GS as a continuous variable shows a statistically significant association with dementia in the adjusted analysis (OR 0.06; CI 0.04-0.09; p < 0.001). CONCLUSION: Dementia was associated with slow GS. This finding provides evidence to include GS as a complementary parameter in the assessment of Colombian elderly adults.
Subject(s)
Dementia/physiopathology , Gait , Health Surveys , Walking Speed , Aged , Cognitive Dysfunction , Colombia , Female , Humans , MaleABSTRACT
The ecosystem services (ES) approach has been introduced in environmental policies and management to serve as a link between nature and society. Communication, education, and participation actions (CEPA) have the potential to facilitate this link. In this research, we evaluated how CEPA have been implemented in biodiversity conservation projects that consider ES. We used content analysis to review 182 biodiversity conservation projects executed by 33 environmental authorities in Colombia. We also used multiple correspondence analysis and cluster analysis to classify projects on the basis of the purpose of CEPA, type of CEPA, integration of CEPA, ES addressed, main stakeholders, and aim of conservation. We found that five aspects are key to fostering social engagement in environmental management projects: promoting explicit consideration of the ES approaches, increasing conservation efforts focused on the non-material benefits of the ES, integrating different types of CEPA, including overlooked key actors (e.g., indigenous communities and women), and developing and implementing social indicators. These considerations might lead environmental managers to revise their daily practices and, eventually, inform policies that foster an explicit link between CEPA and ES approaches.
Subject(s)
Conservation of Natural Resources , Ecosystem , Biodiversity , Colombia , Environmental Policy , HumansABSTRACT
Periodontitis pathogenesis involves activation of host immune responses triggered by microbial dysbiosis. Therefore, controlling periodontal pathogens in-vivo is a main goal of periodontal therapy. New antimicrobials might help to control periodontal infection and improve treatment outcomes at "the dark times" of increasing antibiotic resistance. Here, we determined the biological activity of collinin and isocollinin against 8 bacterial strains. Antimicrobial activity of collinin and isocollinin, chlorhexidine digluconate (CHX) and sodium hypochlorite (NaClO) was evaluated against clinically relevant periodontal bacteria, like Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, Fusobacterium nucleatum, Prevotella intermedia, Dialister pneumosintes strains and superinfectants like Escherichia coli, Staphylococcusaureus, and Pseudomonasaeruginosa strains. A broth microdilution test was carried out to determine the minimum inhibitory concentration of collinin and isocollinin against those strains, and bacterial viability was determined by resazurin assay at diverse concentration and exposure times. P. gingivalis was the most susceptible strain to collinin and isocollinin (MIC 2.1 µg/mL and 4.2 µg/mL respectively). Other periodontal pathogens showed MICs <17 µg/mL for collinin and MICs between 20 and 42 µg/mL for isocollinin, whereas CHX and NaClO showed MICs of 62 and 326 µg/mL, respectively. Collinin and isocollinin also exhibited antimicrobial activity against superinfectant bacteria (MIC < 21 and < 42 µg/mL, respectively). Overall, collinin and isocollinin showed a remarkable antibacterial activity against relevant periodontal and superinfective bacteria, especially against P. gingivalis (MIC 2.1 µg/mL and 4.2 µg/mL respectively) and the highly virulent P. aeruginosa (MIC 5.2 and 20.8 µg/mL, respectively).
Subject(s)
Coumarins/pharmacology , Periodontitis/microbiology , Superinfection/microbiology , Coumarins/chemistry , Dose-Response Relationship, Drug , Humans , In Vitro Techniques , Microbial Sensitivity Tests , Periodontitis/drug therapyABSTRACT
El síndrome de Opsoclonus mioclonus ataxia (SOMA) es una entidad infrecuente en niños, caracterizada por Opsoclonus, mioclonías / ataxia y alteraciones de conducta o de sueño. En la actualidad representa una gran morbilidad dada su naturaleza paraneoplásica y autoinmune; destaca su asociación frecuente con tumores neuroblásticos y su tendencia hacia la cronicidad, recaídas y secuelas en el neurodesarrollo. Se revisa el caso de lactante de 13 meses, uno de los casos reportados a más temprana edad en Colombia, cuyo motivo de consulta fue irritabilidad, temblor distal, opsoclonía, con pruebas negativas para neuroinfección. Posteriormente a estudios se describieron dos masas en ápice torácico izquierdo, una de ellas entre carótida interna y yugular externa. La masa más grande fue de manejo quirúrgico; la patología reportó ganglioneuroblastoma de patrón nodular. No se logró resección quirúrgica completa y tuvo recaída de síntomas; como complicación posquirúrgica se presentó síndrome de Horner incompleto. Al tener difícil acceso quirúrgico se optó por manejo con poliquimioterapia protocolo de riesgo intermedio del COG (Children Oncology Group), que recibió por un año con resolución completa del cuadro clínico. Se presenta el caso de lactante con SOMA de difícil manejo, en el cual el abordaje quirúrgico falló y se requirió terapia complementaria. La quimioterapia se convierte en una opción de manejo cuando la resección quirúrgica no sea completa.
SUMMARY The opsoclonus myoclonus ataxia syndrome (OMA) is an infrequent entity in children, characterized opsoclonus, myoclonus/ataxia, sleep pattern or behavioral alterations. It represents great morbidity given its paraneoplastic and autoimmune nature; it is frequently associated with neuroblastic tumors and its tendency towards chronicity, relapses and neurodevelopmental sequels. We examine the case of a previously healthy thirteen months toddler, one of the earliest age reported cases in Colombia, who consulted for irritability, distal tremor, opsoclonus, and had negative neuroinfection tests. It was reported, after additional studies, the presence of 2 masses in the left pulmonary apex; one of them between the internal carotid artery and the external jugular vein. The bigger mass was surgically removed; pathology reported a ganglioneuroblastoma with nodular pattern. It was not possible to make full surgical resection and the patient experienced a relapse; as a postsurgical complication the patient had transient incomplete Horner syndrome. Due to difficult surgical access, chemotherapy was used for a whole year following the intermediate risk protocol developed by the COG (Children Oncology Group) with full resolution of the symptoms. We present the case of a toddler with difficult surgical approach where the surgical treatment failed, and complementary chemotherapy was needed. Chemotherapy turns into a therapeuthic option when surgical resection is not complete.
Subject(s)
Ganglioneuroblastoma , Opsoclonus-Myoclonus Syndrome , Infant , Paraneoplastic SyndromesABSTRACT
This article presents a study that identifies the variables with greatest impact on the biogas and methane production over a process with thermal pretreatment, to accelerate anaerobic digestion process in sewage sludge in a water treatment plant, for a poultry processing factory, by using fuzzy logic. The designed fuzzy logic model includes 688 inference rules, with a correlation of 99.3% between prediction data against experimental data, for the biogas variable; and 97% for the methane variable. The predictions of the fuzzy logic model were analyzed with response surface models, and it is concluded that the temperature and operating time variables are mutually determining in the biogas and methane production. Likewise, this research provides a methodology for the design of an expert decision support system that allows to evaluate and optimize a mesophilic anaerobic digestion process through a previous thermal treatment in order to improve the yields of biogas and methane in the treatment of effluent sludge from agroindustry. These results propose to diffuse logic as a reliable tool to make comparisons, and predictions for operation variables management on the treatment of residual sludge with thermal pretreatment on anaerobic digestion.