L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the L2HGDH gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. Here, we report a case of L2HGA in a Mexican-Mayan patient with a homozygous mutation at L2HGDH gene and clinical response to vitamin supplements and levocarnitine. Case report: A 17-year-old, right-handed female patient with long-term history of seizures, developmental delay and ataxia was referred to a movement disorders specialist for the evaluation of tremor. Her brain MRI showed typical findings of L2HGA. The diagnosis was corroborated with elevated levels of 2-hydroxyglutaric acid in urine and genetic test which revealed a homozygous genetic known variant c.569C>T in exon 5 of L2HGDH gene. She was treated with levocarnitine and vitamin supplements, showing improvement in tremor and gait. Discussion: To our knowledge this is the first report of a Mexican patient with L2HGA. This case adds information about a rare condition in a different ethnic group and supports the findings of other authors which encountered symptomatic improvement with the use of flavin adenine dinucleotide (and its precursor riboflavin), and levocarnitine. Highlights: We report the first case of Mexican-Mayan patient with L2HGA showing a missense homozygous mutation in L2HGDH gene, and improvement of symptoms with vitamin supplements and levocarnitine.

Latencia diagnóstica y percepción de síntomas prodrómicos en pacientes con enfermedad de Parkinson en Yucatán / Diagnostic latency and perception of prodromal symptoms in patients with Parkinson's disease in Yucatán

Resumen Objetivo: Determinar la latencia diagnóstica en la enfermedad de Parkinson (EP), así como su relación con variables clínicas y demográficas. Determinar la percepción de síntomas no motores: disfunción olfatoria, trastorno conductual del sueño MOR, depresión y estreñimiento, previos al diagnóstico de EP. Materiales y métodos: Estudio transversal realizado en Yucatán, México en sujetos con EP. Se analizó la asociación entre la latencia diagnóstica con variables clínicas y demográficas usando las pruebas estadísticas no paramétricas: U de Mann Whitney y Kruskal-Wallis. Resultados: Se incluyeron un total de 60 sujetos con una edad promedio de 66.7 años. El tiempo promedio transcurrido desde el inicio del primer síntoma motor hasta el diagnóstico fue de 20.8 meses. El tener antecedentes familiares de EP se asoció significativamente (p=0.031) con una latencia diagnóstica más prolongada en comparación con aquellos pacientes que no refirieron familiares con EP. En cualquier momento antes del diagnóstico de EP: el 36.6% de los pacientes percibieron estreñimiento, 15% depresión, 13.3% trastorno conductual del sueño MOR y 11.6% disfunción olfatoria, 51.7% no refirió ninguno. Conclusiones: La latencia diagnóstica promedio de un grupo de 60 pacientes con EP diagnosticados en Yucatán fue de 20.8 meses. La latencia diagnóstica no se asoció significativamente con el tipo de servicio médico de neurología que realizó en diagnóstico de EP (público o privado), ni con otras variables clínicas ni demográficas además del antecedente familiar de EP.

Abstract Objective: To determine the diagnostic latency in Parkinson's disease (PD), and its relationship with clinical and demographic variables. To determine the perception of non-motor symptoms: olfactory dysfunction, REM sleep behavior disorder, depression, and constipation, prior to the diagnosis of PD. Materials and methods: Cross-sectional study conducted in Yucatan, Mexico in subjects with PD. The association between diagnostic latency with clinical and demographic variables was analyzed using the non-parametric statistical tests: Mann Whitney U and Kruskal-Wallis. Results: A total of 60 subjects with a mean age of 66.7 years were included. The average time elapsed from the onset of the first sympoton to diagnosis was 20.8 months. A family history of PD was significantly associated (p=0.031) with a longer diagnostic latency compared to those patients who did not have relatives with PD. Before the diagnosis of PD: 36.6% of the patients perceived constipation, 15% depression, 13.3% REM sleep behavior disorder and 11.6% olfactory dysfunction, 51.7% did not report any. Conclusions: The mean diagnostic latency of a group of 60 patients with PD diagnosed in Yucatan was 20.8 months. Diagnostic latency was not significantly associated with the type of neurological medical service that performed the diagnosis (public or private), or with other clinical or demographic variables in addition to a family history of PD.

Conocimientos sobre anemia ferropénica en madres de niños menores de un año de edad

Introducción: La carencia de hierro es la deficiencia específica de micronutrientes más frecuente en la población cubana. Objetivo: Determinar el nivel de conocimiento sobre anemia ferropénica en madres de niños menores de 1 año de edad. Métodos: Estudio descriptivo y transversal realizado en el policlínico "Ramón López Peña". La población de estudio estuvo conformada por 352 madres de niños menores de 1 año de edad, que aceptaron participar en la investigación. Para la recolección de datos se aplicó un cuestionario. La variable a evaluar fue nivel de conocimientos. Resultados: El principal grupo de edad de las participantes fue entre 20 y 35 años (60,9 %) y en su mayoría casadas (59,3 %). El 53,1 % de estas cursaron el preuniversitario y 60,9 % cuenta únicamente con un hijo. El nivel de conocimiento sobre prevención de anemia ferropénica según dimensión conocimientos básicos fue alta en 54,7 % de las madres, 53 % presentaron conocimientos bajos en relación con las medidas preventivas, y en el tratamiento predominó el nivel medio en 54,2 % de la casuística. De forma general 38,9 % de las madres presentaron conocimientos medios sobre la prevención de la anemia ferropénica. Conclusiones: Aparte de que las madres presentan un nivel de medio a alto de conocimientos sobre la prevención de la anemia ferropénica, se deben intensificar las acciones de salud, encaminadas a elevar la educación nutricional, como elemento fundamental para su prevención.

Introduction: Iron deficiency is the most frequent specific micronutrient deficiency in the Cuban population. Objective: To determine the level of knowledge about iron deficiency anemia in mothers of children under one year of age. Methods: Descriptive and cross-sectional study conducted at "Ramón López Peña" polyclinic. The study population consisted of 352 mothers of children under one year of age, who agreed to participate in the research. A questionnaire was applied for data collection. The variable to be evaluated was level of knowledge. Results: The main age group of the participants was between 20 and 35 years (60.9%) and mostly married (59.3%). 53.1% of them had pre-university studies and 60.9% have only one child. The level of knowledge about the prevention of iron deficiency anemia according to basic knowledge dimension was high in 54.7% of the mothers, 53% presented low knowledge in relation to preventive measures, and on the treatment, the average level predominated in 54.2% of the casuistry. In general, 38.9% of the mothers presented average knowledge about the prevention of iron deficiency anemia. Conclusions: Apart from the fact that mothers have a medium to high level of knowledge about the prevention of iron deficiency anemia, health actions should be intensified, aimed at raising nutritional education, as a fundamental element for its prevention.

Factores de riesgo cardiovascular asociados a la mortalidad de adultos mayores con COVID-19 / Cardiovascular risk factors associated with the mortality of elderly with COVID-19

Introducción: La COVID-19 ha afectado de manera desproporcionada a los adultos mayores, quienes tienen una evolución más desfavorable. Objetivo: Analizar los factores de riesgo cardiovascular asociados con la mortalidad de adultos mayores con COVID-19. Métodos: Se realizó un estudio analítico, de tipo caso-control, de 25 adultos mayores pertenecientes al Policlínico Docente Ramón López Peña de Santiago de Cuba, fallecidos por COVID 19 entre enero de 2020 e igual mes de 2022 (casos) y de 50 que no fallecieron (controles). Se determinó la razón de productos cruzados, el intervalo de confianza y el riesgo atribuible en expuesto porcentual. Resultados: La edad fue el marcador de riesgo de mayor asociación y la hipertensión arterial resultó ser la enfermedad asociada de mayor relevancia, para una razón de productos cruzados de 6,0 y 10,1, respectivamente. Conclusiones: Los hallazgos demostraron que deben identificarse los pacientes de edad avanzada, hipertensos, fumadores, obesos y con deterioro cognitivo, así como utilizar un enfoque preventivo que permita el diagnóstico y tratamiento tempranos, para evitar así desenlaces fatales por COVID- 19.

Introduction: The COVID-19 has affected in a disproportionate way the elderly who have a more unfavorable clinical course. Objective: To analyze the cardiovascular risk factors associated with the mortality of elderly with COVID-19. Methods: An analytic, case-control type study, of 25 elderly belonging to the Ramón López Peña Teaching Polyclinic was carried out in Santiago de Cuba, they died due to COVID 19 between January, 2020 and the same month in 2022 (cases) and 50 that didn't die (controls). The ratio of crossed products, confidence interval and attributable risk in exposed percentage were determined. Results: The age was the risk marker of more association and hypertension was the associated disease of more relevance, for a ratio of crossed products 6.0 and 10.1, respectively. Conclusions: The findings demonstrated that the patients of advanced age, hypertense, smokers, obese and with cognitive deterioration should be identified, as well as to use a preventive approach that allows the early diagnosis and treatment, to avoid this way fatal outcomes due to COVID-19.

Immunohistochemical mapping of neurotensin in the alpaca diencephalon.

INTRODUCTION: The distribution of the immunoreactive cell bodies and fibers containing neurotensin in the alpaca diencephalon was determined by an immunohistochemical technique. MATERIAL AND METHODS: The study was carried out in four male alpacas that lived at sea level. Brains of deeply anesthetized animals were fixed by perfusion with 4% paraformaldehyde. Cryostat sections were stained by a standard immunohistochemical method. RESULTS: Cell bodies containing neurotensin were observed in the zona incerta and hypothalamus. A low/moderate density of these cell bodies was observed in the lateral hypothalamic area, anterior and dorsal hypothalamic areas, suprachiasmatic nucleus, periventricular region of the hypothalamus and in the ventromedial hypothalamic nucleus. In both thalamus and hypothalamus, immunoreactive fibers showed a widespread distribution. In the thalamus, a high density of these fibers was mainly found in the midline nuclei, whereas in the hypothalamus a high density was in general observed in the whole structure. CONCLUSIONS: In comparison with other mammals, the thalamus of the alpaca showed the most widespread distribution of neurotensin-immunoreactive fibers. The widespread distribution of neurotensin through the alpaca diencephalon suggests that the peptide can be involved in many physiological actions.