Developmental and epileptic encephalopathy related to mutations in the SYNGAP1 gene (EED-SYNGAP1) is characterized by psychomotor delay and early-onset epilepsy. We present the first documented case in Ecuador, describing the clinical, electroencephalographic, therapeutic, and evolutionary characteristics of the patient. Genetic diagnosis revealed a de novo nonsense mutation in SYNGAP1. Treatment with valproic acid showed good control of epileptic seizures, although reflex seizures persisted during feeding. This case highlights the importance of genetic studies in the diagnosis of epileptic and developmental encephalopathies.
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Encefalopatía Epiléptica y del Neurodesarrollo por Mutación en SYNGAP1: Primer Caso Reportado en Ecuador. Developmental and Epileptic Encephalopathy due to SYNGAP1 Mutation: First Case Reported in Ecuador.
Palabras clave: Caso Clínico,
Encefalopatía epiléptica,
Epilepsia Refleja,
SYNGAP1,
Trastorno del Neurodesarrollo,
Parenchymal brain calcified cysticercus and progression of hippocampal atrophy. Cisticerco calcificado en el parénquima cerebral y progresión de atrofia de hipocampos.
A seizure-free 74-year-old woman had a single calcified cysticercus (Figure 1), and normal hippocampi (Figure 2, upper panel). Neuroimaging exams were practiced for a study aimed to assess the association between neurocysticercosis and hippocampal atrophy (HA).1 Seven years later, a control MRI showed bilateral HA (Figure 2, lower panel). The patient remained seizure-free during the observation period.
The association between calcified cysticercus and HA in seizure-free individuals has been recognized.2 It has been postulated that repetitive episodes of inflammation from antigens released to the brain parenchyma from calcifications are responsible for remote HA. However, HA progression in these patients has not been reported. This case underscores the need of early treatment with bisphosphonates to reverse the calcification process in the brain, reducing the risk of progressive HA.3
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Depression in adult day care centers in Ecuador: Prevalence and associated variables. Depresión en adultos que asisten a los centros de día en Ecuador: Prevalencia y variables asociadas.
Objectives: The present study aims to identify the prevalence and factors associated with depression in older adults attending day care centers in Quito, Ecuador.
Methods: This study is a correlational study with a non-experimental cross-sectional design. The study was applied in the 8 “Centros de Experiencia del Adulto Mayor” in the city of Quito, Ecuador. A total of 463 older adults with a mean age of 70.15 years were evaluated. All participants were administered a sociodemographic and health questionnaire, cognitive functioning, levels of depression, autonomy, and physical activity were measured.
Results: Using linear regressions, direct relationships were identified between depression scores with marital status (B=0.276, p=0.04) and renal impairment (B=1.257, p=0.007); and inverse relationships with educational level (B=-0. 537, p=0.002), sleep hours (B=-0.342, p<0.001), fish consumption (B=-0.318, p=0.021), physical activity (B=-0.454, p=0.002) and cognitive impairment (B=-0.091, p<0.001).
Conclusions: The results reflect the importance of considering a holistic approach in addressing depression in the older adult, including health, functional status and cognitive status together to prevent and or address depression in older adults. This study contributes to the implementation of public health policies related to the variables associated with depression in adults.
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Palabras clave: adulto mayor,
autonomía funcional,
centro de cuidado diurno,
depresión,
deterioro cognitivo,
Estrés Cotidiano, Funciones Ejecutivas y Rendimiento Académico en Escolares de Primaria. Daily Stress, Executive Functions, and Academic Performance in Elementary School Students.
The presence of stress has been linked to executive functions and academic performance; thus, the present research explored its relationship among primary students. The quantitative study included 62 participants between 8-12 years old, divided into late childhood and preadolescents groups.
A School Daily Stress scale was applied, with a report of academic averages and a battery of neuropsychological tests to measure executive functions and global cognitive capacity (CIT). The tests were the Trail making test, the colour and word Stroop test, and the Wechsler Intelligence Scale for Children. The main results showed a significant and negative correlation between daily stress, cognitive flexibility, working memory and inhibitory control (p<.05).
Regression analysis showed that both the CIT and the perception of daily stress predict academic performance (R2= .35). It is concluded that daily stress is relevant for the development of executive functions in primary school children and can have a negative impact on both academic performance and school trajectories.
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Alta viscosidad sanguínea en pacientes con Ictus Isquémico que residen a gran altitud. High blood viscosity in patients with ischemic stroke residing at high altitude.
Introduction: Risk factors for ischemic stroke have been extensively studied. However, few studies have been conducted in populations residing in high-altitude cities, where acclimatization processes cause elevations in blood viscosity. Our objective is to evaluate the association between blood viscosity and ischemic stroke in patients residing at altitude and to identify the most frequent subtype of ischemic stroke among these patients.
Methods: This case-control study was conducted in a hospital in Cusco, Peru (3,399 m) and included patients with and without ischemic stroke. Patients were included in the ischemic stroke group (cases) after having had up to three days of confirmed illness. The control group comprised patients hospitalized for other causes. Blood viscosity (in centipoise [cP]) was measured using a cone/plate viscometer. Viscosity data are reported as medians with interquartile ranges (IQR), and associations were evaluated using logistic regression with odds ratios (OR).
Results: A total of 386 patients were included, of which 141 (36.5%) had ischemic stroke. The median age was 67 years (IQR 52-80), and 165 (42.7%) patients were women. Blood viscosity was significantly higher in the ischemic stroke group (5.9 cP; IQR, 5.2–6.8) than in the control group (5.5 cP; IQR, 4.9–6.1; p<0.001). An increase in blood viscosity (in 1 cP increments) was associated with an increased risk of developing ischemic stroke (OR 1.40; 95% confidence interval, 1.16–1.69; p<0.001). Patients with the small-vessel occlusion subtype had the highest blood viscosity (6.1 cP; IQR, 5.8–6.3), which was significantly higher than in patients without stroke (p=0.002) or with other ischemic stroke subtypes (p=0.03).
Conclusions: Patients with ischemic stroke residing at high altitudes have higher blood viscosity than control patients regardless of ischemic stroke subtype, although the small-vessel occlusion subtype corresponded with the highest blood viscosity.
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Experiencia de aprendizaje autorregulado y su efecto en el rendimiento académico de universitarios de primer año. Self-regulated learning experience and its effect on the academic performance of first-year university students.
One of the relevant and predictive variables in explaining the academic performance of university students is self-regulation learning. This is why it becomes one of the necessary areas to develop and promote, especially in the first years of university life.
The aim of this study was to analyze the effect of learning experience on self-regulation of learning, self-efficacy for study regulation, willingness to study and academic performance in first-year university students.
The method has a quantitative approach with cross-sectional data in a sample composed of 115 university students of a career in the area of Engineering. Data processing was performed using the Partial Least Squares method.
The results show that learning experiences have a positive effect on the variables under study and specifically on academic performance.
This implies that the student’s experiences in the learning process, where teaching practices to promote self-regulation learning are especially relevant, have a direct effect on their academic performance
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Validación ecológica y de contenido del cuestionario de evaluación de las actividades de la vida diaria–escolar o AVD-E en el contexto colombiano. Ecological and content validation of the questionnaire for evaluating activities of daily living–school or ADL-E in the Colombian context.
Background: In Colombia there is little bibliography regarding the adaptation of instruments that assess the Activities of Daily Living in the population with neurodevelopmental disorders. On the other hand, existing research does not report processes of ecological validity or content adjusted to the Colombian contextual characteristics.
Objective: To carry out structural adaptations for the ecological and content validation of the questionnaire for the evaluation of activities of daily life – school or AVD-E, in the Colombian context.
Material and method: A divergent research methodology with a mixed approach and a DEXPLOS design was used, through three focus groups (10 professionals and 5 families), expert validation (8 professionals) and a pilot test (30 infants).
Results: In the qualitative stage, thirteen emerging categories were obtained that evidenced the need to make structural and linguistic changes. In the quantitative stage, content validity (RVC= 3.82), internal consistency (Cronbach’s Alpha= 0.76) and concurrent validity (Pearson= 0.58) were obtained.
Conclusions: In conclusion, the validated items make it possible to measure the variation of ADLs in the Colombian context, responding to the sociocultural particularities inherent to the ecological assessment of the construct.
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The postural instability in hemiparkinsonian rats is ameliorated by intrastriatal implants of SiO2-DA. La inestabilidad postural en las ratas hemiparkinsonianas es reducida por implantes intraestriatales de SiO2-DA.
Parkinson’s disease (PD) is a chronic disease with loss of dopaminergic neurons of the substantia nigra pars compacta (SNpc) causing motor impairment.
The objective of this study was to evaluate the effect of the intrastriatal release of dopamine (DA) from SiO2 reservoirs on postural asymmetry in hemiparkinsonian animals.
This study compares groups of rats without an implant (L), with empty SiO2 implant (SiO2), and with SiO2 implant plus DA (SiO2-DA) to assess motor and clinical relevance during vertical exploration using the Steps Adjustment and the Cylinder tests.
All rats showed significant deterioration of up to 80% (p < 0.0001) in the execution of the steps with the contralateral forelimb (CF), without affectation of the ipsilateral forelimb (IF) and only the SiO2-DA group recovered 100% symmetry in the adjustment of steps between both forelimbs.
In the cylinder, only the SiO2-DA group significantly reduced (p < 0.0001) the deterioration in the use of CF during vertical exploration. No tolerance or dyskinesias were present at the time of the study.
These results showed that SiO2-DA reservoirs are safe and a promising therapeutic alternative against PD.
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Complicaciones intrahospitalarias del evento cerebrovascular isquémico de novo en centros hospitalarios de segundo nivel de atención. Inpatient complications of de novo ischemic stroke in second level care hospitals.
The ischemic stroke (IS) is one of the leading causes of mortality worldwide. approximately 90% of patients manifest complications that have been progressively increasing since the last decades. The objective of the study is to determine the inpatient complications of IS in second level hospitals during the period 2020-2022.
Methodology: A retrospective study was carried out in two second level hospitals in Guayaquil. Patients with age ≥ 40 years with de novo ischemic cerebrovascular disease were included. The Oxfordshire Community Stroke Project (OCSP) classification was used to categorize patients according to the affected circulation, with the neurologist being the professional responsible for carrying out said categorization. Descriptive statistics were applied to determine the most frequent neurological complications (NC) and extraneurological (ENC), using frequencies and percentages.
Results: In 320 patients with IS, 64% were men with a mean age of 70 years. In-hospital complications occurred in 72.8% of the patients. The average incidence of NC in the study population was 48.1% while ENC was 55.6%.
Conclusion: In-hospital complications of IS are frequent and their incidence varies depending on the affected circulation.
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Factores de riesgo cardiovascular y etiología del ictus en adultos jóvenes. Cardiovascular risk factors and stroke etiology in young adults.
Objectives: To describe the etiology of stroke and the frequency of cardiovascular risk factors in a group of patients under 50 years of age, hospitalized in the stroke unit of a public tertiary hospital in Ecuador.
Patients and methods: Descriptive and retrospective cross-sectional study of patients aged 50 and under, admitted between November 2016 and August 2019. Demographic data, cardiovascular risk factors, type of stroke, etiology door symptom time and the length of stay in the neurology department were analyzed. The results were compared between sexes.
Results: 45 patients were included. The mean age was 38 ± 10 years and there were no differences between the sexes. The 77.8% had some cardiovascular risk factors. Alcohol consumption predominated (33.3%), followed by smoking and dyslipidemia (22.2%). In general, and by sex, ischemic stroke (75.5%) was the most frequent. Intracerebral hemorrhage represented 24.4%. In the etiology of the ischemic stroke, an unusual cause predominated (35.3%), followed by cardioembolic stroke (26.8%) and that of undetermined etiology. For intracerebral hemorrhage, the most frequent etiology was hypertension (63.3%).
Conclusions: The high frequency of at least one modifiable cardiovascular risk factor, added to the delay in arrival at the hospital, constitute an alert to consider the need to insist on primary prevention and carry out information campaigns aimed to improve knowledge of the disease.
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Tratamiento de migraña en embarazo. Treatment of migraine in pregnancy.
Introduction: Migraine is the most disabling primary headache. In pregnancy, its treatment is controversial due to possible side effects.
Objective: Conduct an updated literature search on migraine treatment during pregnancy.
Method: A search was carried out in PubMed, Scopus and Web of Science. Search terms were “pregnancy”, “migraine” and “treatment”. Search date ranged from 2018 to 2023. 315 articles were found; duplicates were eliminated with Rayyan QCRI (Rayyan Systems Inc ©) where selection was carried out by title and summaries, and full text. Finally, 21 articles were selected that included clinical trials, systematic reviews and narratives.
Development: Acute and preventive therapy exists for migraine during pregnancy; non-pharmacological treatment is the first choice in both. For acute treatment, paracetamol, non-steroidal anti-inflammatory drugs only in the second trimester, triptans, metoclopramide and nerve blocks can be used. If the intensity is moderate and is not controlled with acute treatment, prevention is carried out with propranolol; Other drugs do not show safe evidence for use during pregnancy
Conclusion: An appropriate choice of treatment, prioritizing non-pharmacological treatment and taking into account drug associations, is necessary in pregnant women whose migraine attacks do not subside.
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Neuropsychological and brain atrophy pattern characterization in patients with stroke related to COVID infection: A systematic review. Caracterización neuropsicológica y del patrón de atrofia cerebral en pacientes con ictus relacionado a COVID: Una revisión sistemática.
Introduction: The high mortality rates in patients with COVID infection have been the main focus of interest in clinical and research practice. COVID infection has also been characterized by its respiratory consequences; however, several studies have reported neurological manifestations in this clinical population (e.g., stroke). From a neurological perspective, patients with stroke related to COVID infection remain challenging as well. No systematic reviews have yet focused on neuropsychological and neuroanatomical correlate profiles.
Aim: To characterize the neuropsychological profile and the pattern of brain areas affected in adult and older adults with stroke related to COVID infection.
Methods: The present study followed the PRISMA guidelines and included studies from the PubMed, Scopus, and Web of Sciences databases, published between January 2020 and September 2022.
Results: 7 articles were included in this systematic review for critical analysis. Ischemic stroke was the most reported in patients. Results suggest that the most reported neuropsychological declines are orientation, attention, memory, executive function, visuoconstructive skills, and language. The pattern of brain areas also considers right lesions in cortical and subcortical regions.
Conclusion: In patients with COVID-related strokes, lesions in the left hemisphere or bilateral are common, together with the expression of aphasia. Likewise, our findings reflect only ischemic patients’ cognitive and brain features. Therefore, results must be interpreted carefully.
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Palabras clave: Atrofia Cerebral,
Correlato neuroanatómico,
COVID-19,
diagnóstico,
evaluación neuropsicológica,
Ictus,
Paraparesia flácida subaguda progresiva y meningitis carcinomatosa como forma de presentación de recaída tardía de leucemia linfoblástica aguda de estirpe linfoide B BCR-ABL/Phi+. Progressive subacute flaccid paraparesis flaccida and subclinical carcinomatous meningitis as a presentation of late relapse of BCR-ABL/Phi+ B-lymphoblastic acute lymphoblastic leukaemia.
Introduction: Acute lymphoblastic leukemia (ALL) is a malignant neoplasm characterized by the proliferation of abnormal lymphoid cells in bone marrow (BM) and/or extramedullary territories.
Case report: 20-year-old male with BCR-ABL B-ALL in childhood, presenting with subacute flaccid paraparesis (PFS) and paresthesias in the lower limbs. He presents with motor axonal polyneuropathy, leptomeningeal uptake in left occipito-parietal sulci and extramedullary intrathecal D11-S1 infiltration. Immunoblasts in peripheral blood and MO with BCR-ABLp190 mutation confirm late relapse of ALL.
Conclusions: We expose a rare case of PFS and carcinomatous meningitis as a form of presentation of late relapse of BCR-ABL ALL-B BCR-ABL.
Progressive subacute flaccid paraparesis flaccida and subclinical carcinomatous meningitis as a presentation of late relapse of BCR-ABL/Phi+ B-lymphoblastic acute lymphoblastic leukaemia.
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All that Restricts is Not Stroke: A Case Series of Brain imaging Findings in Infective Endocarditis. Todo lo que restringe no es enfermedad cerebrovascular: Una serie de casos de hallazgos de imágenes cerebrales en endocarditis infecciosa.
Infective endocarditis is a systemic illness characterized by infection and inflammation of the endocardium which produces symptoms due to local causes and embolization.
One of the sites of embolism is the central nervous system. Cerebral magnetic resonance imaging (MRI) exhibits greater sensitivity than computed tomography (CT) when detecting covert lesions like cerebral microbleeds and asymptomatic embolisms.
There are specific patterns on cerebral MRI that prompt the diagnosis of infective endocarditis. This is a retrospective case series with the collection of data from 3 patients, who were encountered in the emergency and intensive care departments.
All three patients had clinical features secondary to a shower of multiple emboli detected on MRI brain as multiple bi-hemispheric and multi-circulation foci of diffusion restriction.
They were presumed initially to be cardioembolic in origin, which after targeted investigation were found to be due to infective emboli from IE.
Bi-hemispheric scattered diffusion restricting foci can mislead the treating physician into evaluation for stroke secondary to cardioembolism including the hunt for an occult atrial fibrillation which can delay treatment required in IE.
Distinguishing between septic and other cardioembolic lesions will result in the optimum management of such cases.
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Encephalitis and rapidly progressive dementia due to probable Prion disease presenting with a non-convulsive status epilepticus. Case report and literature review. Encefalitis y demencia rápidamente progresiva por probable enfermedad priónica que se presenta con un estado epiléptico no convulsivo. Reporte de caso y revisión de la literatura.
Prion diseases are rare and rapidly progressive fatal neurological disorders characterized by abnormal folding of neuronal proteins.
The diagnosis is often challenging and relies on a high clinical suspicion, imagenological findings, electroencephalographic (EEG) patterns and cerebrospinal fluid (CSF) analysis.
We present a case of probable prion disease with an accelerated neurological decline and a non-convulsive status epilepticus (NCSE), which has only been described in a few cases worldwide, and seems to be associated with worse neurological outcomes and shorter survival time.
Clinical manifestations, treatment, and outcomes are shown below.
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External capsule infarct related to occlusion of the middle cerebral artery. Infarto en la cápsula externa relacionado con oclusión de la arteria cerebral media.
The external capsule is a band of longitudinal fibers (white matter) limited by two deep gray matter structures, the putamen medially and the claustrum laterally (Figure 1).
This structure is mainly composed of axons that connect different areas of the cerebral cortex with the tegmentum (corticotegmental fibers).
Ischemic strokes confined to the external capsule are extremely rare, representing 0.3% of patients enrolled in a large hospital-based ischemic stroke registry.
External capsule infarcts may be related to different pathogenic mechanisms, including large artery disease, cardiogenic brain embolism, sporadic cerebral small vessel disease, or to a combination of them.
In addition, external capsule infarcts have been typically reported in a hereditary form of cerebral small vessel disease known as CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).
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Discapacidad e inclusión educativa en la enseñanza superior de Honduras: Lecciones aprendidas. Disability and educational inclusion in higher education in Honduras: Lessons learned.
Palabras clave: Discapacidad,
educación superior,
Honduras,
inclusión educativa,
lecciones aprendidas,
Actividades básicas e instrumentales de la vida diaria en pacientes con demencia tipo Alzheimer. Basic and instrumental activities of daily living in patients with Alzheimer’s dementia.
Alzheimer’s dementia (AD) produces multiple alterations, both in the cognitive, behavioral and functional spheres. The basic activities of daily living (BADL) are affected in patients with AD, compared with subjects without cognitive impairment (SWCI). In this research, 50 patients with AD who met the diagnostic criteria established in the DSM-IV-TR and the NINCDSADRDA and 60 SWCI with similar sociodemographic characteristics were analyzed. The results show that the most affected BADL are the capacities of food, washing, dressing, arranging, transferring, walking, going up and down stairs and the least affected BADL were urination and the ability to go to the toilet, not being affected differentially in the deposition ability. These findings confirm the general hypothesis that patients with AD have involvement of the BADL compared with the SWCI.
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Palabras clave: actividades básicas de la vida diaria,
demencia tipo alzheimer,
Keywords: Alzheimer dementia,
Basic activities of daily living,
