Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.

Juvenile myoclonic epilepsy (JME) is the most common of the generalized genetic epilepsies, with multiple causal and susceptibility genes; however, its etiopathogenesis is mainly unknown. The toxic effects caused by xenobiotics in cells occur during their metabolic transformation, mainly by enzymes belonging to cytochrome P450. The elimination of these compounds by transporters of the ABC type protects the central nervous system, but their accumulation causes neuronal damage, resulting in neurological diseases. The present study has sought the association between single nucleotide genetic variants of the CYP2C9, CYP2C19, and ABCB1 genes and the development of JME in patients compared to healthy controls. The CC1236 and GG2677 genotypes of ABCB1 in women; allele G 2677, genotypes GG 2677 and CC 3435 in men; the CYP2C19*2A allele, and the CYP2C19*3G/A genotype in both sexes were found to be risk factors for JME. Furthermore, carriers of the TTGGCC genotype combination of the ABCB1 gene (1236/2677/3435) have a 10.5 times higher risk of developing JME than non-carriers. Using the STRING database, we found an interaction between the proteins encoded by these genes and other possible proteins. These findings indicate that the CYP450 system and ABC transporters could interact with other genes in the JME.

Hipopotasemia no medicamentosa como biomarcador de nefropatía crónica temprana en adultos del sur de Honduras / Non-drug Hypokalemia as Biomarker of Early Chronic Kidney Disease in Adults from Southern Honduras

Introducción: La hipopotasemia es un trastorno hidroelectrolítico frecuente, asociado a enfermedades sistémicas y multifactoriales, cuya forma aguda puede complicarse y causar la muerte, pero en su presentación crónica puede ser un marcador de nefropatía. Objetivo: Caracterizar el perfil del paciente con hipopotasemia no medicamentosa atendidos de emergencia. Métodos: Se revisaron los registros de pacientes mayores de 18 años con diagnóstico de hipopotasemia, ingresados en el hospital en el período de junio 2018 a diciembre de 2019. Se colectaron datos demográficos, antecedentes médicos y evolución postratamiento. Se comparó con 108 pacientes sin hipopotasemia atendidos en el período de estudio. Resultados: Se encontraron 87 casos con edad media de 38,5 años. El 90,8 por ciento eran hombres menores de 50 años, de oficio agricultor (29,9 por ciento), con historia de exposición a plaguicidas y a altas temperaturas ambientales. La mayoría de ellos no tenía historia de enfermedad cardiometabólicas o renal previa. El 48,3 por ciento de todos los pacientes con hipopotasemia (n = 42) tenía creatinina mayor a 1,2 mg/dL y 63 por ciento tenía hiponatremia. La hipopotasemia fue moderada en 39 por ciento y severa en 12 por ciento, los hombres 4,7 veces más afectados que las mujeres. Respecto al grupo sin hipopotasemia y creatinina anormal, tenían mayor frecuencia de enfermedad crónica (92,5 por ciento versus 8 por ciento). Conclusiones: Se encontró hipopotasemia no medicamentosa en varones agricultores, sin enfermedad crónica, pero con datos de nefropatía temprana e hiponatremia, se sugirió la posibilidad de nefropatía mesoamericana. Debe establecerse una alerta epidemiológica regional y un programa de prevención y control(AU)

Introduction: Hypokalemia is a frequent hydroelectrolytic disorder, associated with systemic and multifactorial diseases, whose acute form can be complicated and cause death, but in its chronic presentation it can be a marker of nephropathy. Objective: To characterize the profile of the patient with non-drug hypokalemia seen in an emergency. Methods: The records of patients older than 18 years diagnosed with hypokalemia, admitted to the hospital from June 2018 to December 2019, were reviewed. Demographic data, medical history, and post-treatment evolution were collected. It was compared with 108 patients without hypokalemia seen in the same period. Results: 87 cases with mean age of 38.5 years were studied. 90.8% were men under 50 years of age, who worked as farmers (29.9percent), with history of exposure to pesticides and high ambient temperatures. Most of them had no history of previous cardiometabolic or renal disease. 48.3percent of all patients with hypokalemia (n = 42) had creatinine higher than 1.2 mg/dL and 63percent had hyponatremia. Hypokalemia was moderate in 39% and severe in 12percent, and it was found that men were affected 4.7 times more than women. Regarding the group without hypokalemia and abnormal creatinine, they had higher frequency of chronic disease (92.5percent versus 8percent). Conclusions: Non-drug hypokalemia was found in male farmers, without chronic disease, but with evidence of early nephropathy and hyponatremia. The possibility of Mesoamerican nephropathy was suggested. A regional epidemiological alert and a prevention and control program should be established(AU)

Differences in inflammatory markers between coronavirus disease 2019 and sepsis in hospitalised patients.

Background: Inflammatory markers are pivotal for the diagnosis of coronavirus disease 2019 (COVID-19) and sepsis. This study compared markers between hospitalised patients with COVID-19 and those with bacterial sepsis. Methods: This retrospective single-centre cohort study included 50 patients with COVID-19 clinical stages II and III and 24 patients with bacterial sepsis. Both groups were treated according to the country's official standards. Leukocytes, C-reactive protein (CRP), ferritin, and D-dimer were registered at the time of patient's admission and 24, 48, and 72 h after initiating intrahospital treatment. Results: Upon admission, marker levels were high, with a significant decrease at 72 h after antibiotic therapy in the sepsis group. The leukocyte count was higher in deceased patients with sepsis. The mean ferritin levels were 1105 mcg/dl for COVID-19 and 525 mcg/dL for sepsis. Higher ferritin levels in COVID-19 (P = 0.001) seemed to be a predictor of higher mortality. Upon admission, the median D-dimer level was 0.68 mg/L for COVID-19 and 3 mg/L for patients with sepsis, whether recovered or deceased. As D-dimer, procalcitonin levels were higher in patients with sepsis (P = 0.001). CRP levels were equally elevated in both entities but higher in deceased patients with COVID-19. Conclusion: Ferritin was the main inflammatory marker for COVID-19, and leukocytes, procalcitonin, and D-dimer were the main markers of sepsis. Markers that were most affected in deceased patients were CRP for COVID-19 and leukocyte for sepsis. The therapeutic implications of these differences require further study.

Estudio descriptivo del perfil de investigadoras hondureñas en Google Académico / Descriptive study of the profile of Honduran female researchers in Google Scholar

Introducción: El rol de la mujer en el área científica ha crecido con el paso de los años, pero aún persiste una gran brecha de género en ciencia. Para conocer y manejar esa brecha, es necesario hacer un mapeo de la situación de las mujeres investigadoras en Honduras. Objetivo: Describir la participación y contribuciones de las investigadoras hondureñas en la producción científica nacional según su perfil en Google Académico. Metodología: Se usó Power BI para analizar las variables sexo, institución, índice H, número de citaciones, número de publicaciones, año de la primera publicación, y áreas de investigación registradas en su perfil, utilizando la versión 2 del Ranking de Investigadores Hondureños según su Perfil de Google Académico disponible en https://bit.ly/38s6YuT, el cual es un registro depurado. Resultados: El 35% de todos los perfiles eran de mujeres, 41% vinculadas a las ciencias médicas y de la salud y en su mayoría (92%), afiliadas a universidades. Pese al creciente número de mujeres investigadoras registradas en Google Académico, el crecimiento no es simétrico respecto a los hombres. Solamente el 3.1% de las investigadoras tenía un índice H que supera los dos dígitos. Conclusión: A pesar de los avances, se mantiene la inequidad de género entre investigadores hondureños según la data de Google Académico. Se requiere de políticas públicas e institucionales, para corregir esa brecha...(AU)

Dealing with perceptions related to thrombosis and COVID-19 vaccines

To the Editor:To date, there have been around 178 million confirmed SARS CoV-2 infections, and more than 3 million deaths worldwide. The global war against COVID-19 has been fought mainly in three battlegrounds: the hospitals, the communities, and in the minds of people. As populations around the globe still struggle to establish or keep the public health strategies needed, they also face an infodemic, especially regarding vaccines.All vaccines can have rare adverse events, but during the pandemic, the report of isolated cases of blood clots associated to two of the anti-COVID vaccines that use adenovirus as a viral vector (AZD1222 and Johnson & Johnson) have raised concerns in the population, as well as emergency reviews, safety signals, and vaccination pauses. [...]

Honduras: two hurricanes, COVID-19, dengue and the need for a new digital health surveillance system.

A recently published article of this journal stated that informatics solutions can guide better public health decision-making during the COVID 19 (Coronavirus Disease 2019) pandemic. Honduras is a country facing the COVID-19 pandemic with a weak health surveillance system while also fighting a dengue epidemic and the aftermath of two hurricanes that struck its territory in November 2020. In response, we as academics started a COVID-19 and Dengue Observatory combining several technological platforms and developing multidisciplinary research to help the country navigate the crisis. Mapping the pandemic and the natural disasters showed us that technology can be applied toward epidemiology to benefit communities in a time of need by quickly building a basic digital health surveillance system for Honduras.

Dealing with perceptions related to thrombosis and COVID-19 vaccines

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Un ranking de investigadores hondureños basado en criterios de webometría con perfiles de Google Académico / A ranking of Honduran researchers based on webometry criteria with Google Scholar profiles

Justificación: la webometría se ha usado para medir la actividad y visibilidad científica en los países. Objetivo: construir un ranking de investigadores hondureños según las citaciones en sus perfiles de Google Académico y su afiliación institucional. Metodología: se realizó una búsqueda sobre publicaciones científicas de investigadores e instituciones académicas e independientes de Honduras registradas en Google Académico. La información se organizó en Microsoft Excel y se analizó con la herramienta Tableau, con la cual también se creó un tablero interactivo para acceso público, mostrando frecuencias, porcentajes y promedios de las citaciones de los investigadores y otros criterios. Resultados: el 72% (110/151) de los investigadores con perfiles disponibles eran hombres; la Universidad Nacional Autónoma de Honduras lideró el porcentaje de investigadores con el 55.6% (84/151), seguida por la Universidad Tecnológica Centroamericana con el 13.9% (21/151) y la Escuela Agrícola Panamericana con el 12.6% (19/151). Los investigadores de la Escuela Agrícola Panamericana mostraron el mayor promedio de citaciones por investigador (390), seguida por los investigadores de la Universidad Nacional Autónoma de Honduras (179) y los de la Universidad Tecnológica Centroamericana (177). Los investigadores en los primeros 20 lugares, clasificados con el índice H, también pertenecían a estas universidades. Las disciplinas más frecuentemente reportadas por los investigadores fueron las ciencias sociales (27.2%), de la salud (22.53%), agrícolas (9.32%) y las naturales (8.6%). Conclusiones: el mayor número de investigadores con perfiles en Google Académico pertenecían a la Universidad Nacional Autónoma de Honduras, pero los investigadores de dos universidades privadas tuvieron un promedio de citación por autor casi igual o mayor a los de dicha institución. El tablero público de ranking de investigadores hondureños https://tabsoft.co/3wK3vym, puede orientar estrategias de visibilidad de los científicos del país...(AU)

Las Curvas Para Medir Circunferencia Cefálica Y Las Potenciales Diferencias Antropométricas En Latinoamérica Y El Mundo / Cephalic Circumference Curves And Potential Anthropometric Differences In Latin America And The World

Resumen La circunferencia cefálica (CC) es una medición que detecta alteraciones del crecimiento adecuado del cerebro. Las curvas de CC más utilizadas mundialmente son las propuestas por los CDC, NCHS y OMS. A pesar de las críticas sobre la metodología para crearlas, se han hecho actualizaciones para corregir inconsistencias. Esto ha servido para detectar y tratar oportunamente problemas de tamaño craneal tanto en los extremos pequeños (microcefalia) o grandes (macrocefalia). Algunos autores opinan que existe la necesidad de contar con curvas regionales para mejorar el valor diagnóstico de éstas en cada población. Otros, como Kenton Holden y colaboradores, han propuesto nuevas curvas que consolidan diferentes bases de datos con el objetivo de reducir el riesgo de errores en el diagnóstico de microcefalia o macrocefalia leve. Es necesario estudiar cuál es el patrón de crecimiento craneal normal de niños/as latinoamericanos por cada región o país, así como conocer las diferencias interétnicas.

Abstract The cephalic circumference (CC) is a measurement that detects alterations in the proper growth of the brain. CC curves most used worldwide are those proposed by the CDC, NCHS and WHO. Despite criticism of the methodology used to create them, updates have been made to correct inconsistencies, and that has helped to detect and treat on time problems of cranial size at both the small (microcephaly) and large (macrocephaly) ends. Several authors have suggested that regional reference curves should be made, and others, like Kenton Holden and colleagues, have proposed new curves that consolidate different databases, aiming to reduce the risk of errors in the diagnosis of microcephaly or mild macrocephaly. It is necessary to study what the normal cranial growth pattern of Latin American children is for each region or country, as well as to determine the interethnic differences.

Complejo Esclerosis Tuberosa Atípico Con Espasmos Epilépticos De Inicio Tardío: Diagnóstico Complejo Por Telemedicina En Una Comunidad Rural De Honduras / Atypical Tuberous Sclerosis Complex With Late Onset Epileptic Spasms: Complex Diagnosis By Telemedicine In A Rural Community Of Honduras

RESUMEN El complejo esclerosis tuberosa (CET) es una enfermedad neurocutánea infrecuente y subdiagnosticada en zonas remotas donde usualmente no hay neurólogos disponibles. Una niña de 22 meses fue llevada a una clínica en una comunidad rural por un cuadro de epilepsia refractaria de causa no determinada, de inicio a los 18 meses de edad con episodios de oculogiros y espasmos epilépticos en extensión. Además presentaba angiofibromas perinasales y lesiones hipomelanóticas en tronco. El encefalograma interictal hecho en la comunidad mostraba actividad epiléptica multifocal y generalizada. La niña había sido llevada a la ciudad para una resonancia cerebral, la cual reveló hiperintensidades subcorticales multifocales y nódulos subependimarios. Por teleconsulta entre médicos de la comunidad y especialistas nacionales e internacionales se diagnosticó CET atípico con espasmos epilépticos de inicio tardío. Se sugirió tratamiento que logró control de las crisis y se estableció un plan de seguimiento. El caso muestra que las unidades de telemedicina en zonas rurales son una opción tecnológica para brindar acceso a atención especializada de las epilepsias.

ABSTRACT Tuberous sclerosis complex (TSC) is an uncommon neurocutaneous disease often underdiagnosed in remote areas where specialists in neurology are usually not available. A 22 month-old girl was taken to a clinic in a rural village presenting refractory epilepsy of undetermined cause that started at 18 months of age with upward eye deviation episodes and epileptic extensor spasms. She also presented perinasal angiofibromas and hypomelanotic skin lesions in trunk. The interictal encephalogram done in the community showed multifocal and generalized epileptic activity. The girl had been taken to the city for a brain magnetic resonance, which revealed multifocal subcortical hyperintensities and subependymal nodules. By teleconsult between community doctors and national and international specialists, atypical TSC with late onset epileptic spasms was diagnosed. The recommended treatment resulted in controlled seizures, and a follow-up plan was established. This case illustrates that telemedicine units in rural areas are a technological option to provide access to specialized epilepsy care.

Conocimientos, actitudes y prácticas en cáncer de mama y el autoexamen para detección temprana / Knowledge, attitudes and practices about breast cancer and self-examination for early detection

Antecedentes: El cáncer de mama (CM) es causa frecuente de morbimortalidad en todo el mundo y Honduras no es excepción. Se ha hecho muchos esfuerzos por promover la detección y tratamiento temprano. Objetivo: Determinar los conocimien-tos, actitudes y prácticas en mujeres sobre el CM y su detección y tratamiento oportuno. Pacientes y métodos: Se realizó un estudio transversal descriptivo durante el primer trimestre del 2017. Se entrevistó a 100 pacientes consecutivas en las consultas externas de medicina general y ginecología en el Centro de Salud San Miguel, Hospital San Felipe de Tegucigalpa, Hospital General Santa Teresa de Comayagua. Las variables evaluadas fueron sociodemográicas, conceptos sobre cáncer de mama, práctica y método del autoexamen de mama y actitudes respecto a la importancia y la promoción del autoexamen. RESULTADOS: Todas las personas encuestadas han escuchado de cáncer de mama, su diagnóstico y tratamiento, pero cerca de un cuarto de ellas tenían conceptos incompletos sobre la importancia y método del autoexamen, sobredimensionando la importancia de los métodos de imagen. El 91% de entrevistadas tenia entre 21 y 50 años de edad y 92% airmó que se practica el eautoexamen al menos una vez al año. El método de tratamiento más conocido fue la cirugía (78%). Las entrevistadas opinaron que los médicos promocionan poco el autoexamen. Conclusión: La educación sobre CM y autoexamen de mama debería actualizarse en Honduras en base a los conocimientos, acti-tudes y prácticas entre nuestras mujeres, según la medicina basada en evidencia. Se propone un estudio línea base multicéntrico.

Feasibility of developing a pediatric telehealth network in Honduras with international consultation support.

INTRODUCTION: Honduras is the second poorest country in Central America, and roughly 50% of the population lives in rural areas. A telehealth network linking these areas to larger health centers may improve patient access to care, and physician access to educational opportunities. This pilot study assessed the feasibility of establishing a pediatric telehealth network between underserved clinics in Honduras and the Medical University of South Carolina (MUSC). METHODS: Two underserved Honduran clinics were identified and invited to participate in the telehealth network. Providers from these clinics connected remotely to educational conferences at MUSC, and received teleconsults from MUSC physicians and physicians from the other Honduran site. Honduran providers completed five-point Likert scale satisfaction surveys following participation in the conferences and teleconsults. RESULTS: Survey feedback was positive, with 100% of respondents stating they would utilize telemedicine in the future. Dissatisfaction was expressed subjectively in the survey comments with regards to poor Internet connectivity and unreliable electrical power. CONCLUSIONS: The establishment of a telehealth network between Honduras and MUSC is feasible, and rural providers were receptive to the clinical and educational opportunities this network provides. Future projects will expand telehealth capabilities to other Honduran sites and focus on intra-country collaboration to ensure sustainability.

High-dose versus low-dose valproate for the treatment of juvenile myoclonic epilepsy: Going from low to high.

Juvenile myoclonic epilepsy (JME) is a genetic generalized epilepsy accounting for 3-12% of adult cases of epilepsy. Valproate has proven to be the first-choice drug in JME for controlling the most common seizure types: myoclonic, absence, and generalized tonic-clonic (GTC). In this retrospective study, we analyzed seizure outcome in patients with JME using valproate monotherapy for a minimum period of one year. Low valproate dose was considered to be 1000mg/day or lower, while serum levels were considered to be low if they were at or below 50mcg/dl. One hundred three patients met the inclusion criteria. Fifty-six patients (54.4%) were female. The current average age was 28.4±7.4years, while the age of epilepsy onset was 13.6±2.9years. Most patients corresponded to the subsyndrome of classic JME. Forty-six (44.7%) patients were free from all seizure types, and 76 (73.7%) patients were free from GTC seizures. No significant difference was found in seizure freedom among patients using a low dose of valproate versus a high dose (p=0.535) or among patients with low blood levels versus high blood levels (p=0.69). In patients with JME, it seems appropriate to use low doses of valproate (500mg to 1000mg) for initial treatment and then to determine if freedom from seizures was attained.

The influence of traditional and complementary and alternative medicine on medication adherence in Honduras.

BACKGROUND: Adherence to medication is a worldwide problem and deserves country-specific attention. Honduras, like many other countries, has allopathic providers, traditional medicine (TM), and complementary and alternative medicine (CAM). Understanding a population's health behaviors is essential to satisfactory integration of these systems and successful patient care. STUDY OBJECTIVE: The objective was to identify factors that influence medication adherence in Honduras. DESIGN: The research team administered a cross-sectional, 25-item questionnaire to various neighborhoods based on national demographic statistics in order to obtain a quota sample. Setting • The survey took place in Tegucigalpa, Honduras, Central America. PARTICIPANTS: The research team surveyed 614 Hondurans, aged ≥ 18 y, within the general population of Tegucigalpa, the largest and capital city of Honduras, in neighborhoods representing areas where primarily the lower and middle classes lived. OUTCOME MEASURES: The primary outcome measure was a modified Medication Adherence Report Scale (MARS). Results • The research team collected 610 surveys that had complete answers to questions about adherence (610/614, 99.3%) total complete responses to other items varied. The prevalence of use of TM was 62.8% (381/607). Nearly one-half, 47.3% (287/607), of all the respondents had used herbs or teas for health in the prior year, and 26.1% (159/607) of all respondents had received a sobada (therapeutic rubbing). Respondents with daily private spiritual devotions (OR = 0.610, P = .018) and diabetes (OR = 0.154, P = .004) were less likely to report low adherence. Receiving a sobada and a history of fever were independently associated with low adherence (OR = 1.718, P = .017 and OR = 2.226, P < .001, respectively). CONCLUSIONS: Hondurans use both allopathic and TM. Although private spiritual devotion may help improve adherence to medication, only use of traditional massage therapy, the sobada, was associated with decreased adherence. Effective integration of alternative therapies in Central America will require proper counseling on how to combine multiple therapies to maximize the health benefits.

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy with classic adolescent onset of stimuli sensitive seizures. Patients typically deteriorate rapidly with dementia, ataxia, vegetative failure and death by 25 years of age. LD is caused by homozygous mutations in EPM2A or EPM2B genes. We found four novel mutations in EPM2A - three in exon 4 (Q247X, H265R G279C) and one in exon 1 (Y86D) - and a previously described mutation in exon 4 (R241X). These five EPM2A mutations were found in four index cases and affected relatives. Patient 1 with classic LD was doubly heterozygous for H265R and R241X in exon 4; while Patient 2, who also had classic LD, was homozygous for Q247X in exon 4. Patient 3 with classic LD was homozygous for Y86D in exon 1, but the same mutation in his affected brother manifested an atypical earlier childhood onset. For the first time, we describe a later onset and slower progression of EPM2A-deficient LD seen in Patient 4 and her three sisters who were doubly heterozygous for R241X and G279C in exon 4. In these sisters, seizures started later at 21 to 28 years of age and progressed slowly with patients living beyond 30 years of age. Our observations suggest that variations in phenotypes of EPM2A-deficient LD, like an earlier childhood or adolescent or later adult onset with a rapid or slower course, depend on a second modifying factor separate from pathogenicity or exon location of EPM2A mutations. A modifying gene amongst the patient's genetic background or environmental factors may condition age of onset and rapid or slow progression of LD.