Doença de Pompe de início tardio: primeiro relato de caso no Perú

Introduction: Late-onset Pompe disease is an extremely rare enzyme characterized by incapacitating and progressive neuromuscular damage. There is still no consensus on treatment, but clinical trials have shown that enzymatic replacement with recombinant alpha-glucosidase acid could slow the natural course of the disease and improve prognosis. Clinical case: A 67-year-old man diagnosed with Pompe disease for 4 years, in treatment with physical rehabilitation. He entered the service for right lower limb cellulite that decompensates his background leading to severe respiratory failure. It is admitted to mechanical ventilation, its evolution is torrid due to multiple bacterial infections associated with fan. After 7 months in mechanical ventilation despite multiple weaning attempts, the enzymatic replacement treatment with recombinant acid alpha glucosidase is proposed. Two weeks later, he began improving ventilatory parameters and was discharged after 11 months of hospital stay. Conclusion: Enzymatic replacement treatment with recombinant acid alpha glucosidase showed a positive effect on the evolution of our patient.Introducción: La enfermedad de Pompe de inicio tardío es una enzimopatía sumamente rara que se caracteriza por daño neuromuscular incapacitante y progresivo. Aun no existe consenso acerca del tratamiento, pero ensayos clínicos han mostrado que el reemplazo enzimático con alfa glucosidasa ácida recombinante podría enlentecer el curso natural de la enfermedad y mejorar el pronóstico. Caso clínico: Varón de 67 años con diagnóstico de enfermedad de Pompe desde hace 4 años, en tratamiento con rehabilitación física. Ingresó al servicio por celulitis de miembro inferior derecho que descompensa su cuadro de fondo llevándolo a una insuficiencia respiratoria severa. Es ingresado a ventilación mecánica, su evolución es tórpida debido a múltiples sobreinfecciones bacterianas asociadas a ventilador. Luego de 7 meses en ventilación mecánica a pesar de múltiples intentos de destete, se propone el tratamiento de reemplazo enzimático con alfa glucosidasa ácida recombinante. Dos semanas después inicia mejoría de parámetros ventilatorios y es dado de alta luego de 11 meses de estancia hospitalaria. Conclusión: El tratamiento de reemplazo enzimático con alfa glucosidasa ácida recombinante, mostró un efecto positivo en la evolución de nuestro paciente.Introdução: A doença de Pompe de início tardio é uma enzimopatia extremamente rara caracterizada por danos neuromusculares incapacitantes e progressivos. Ainda não há consenso sobre o tratamento, mas ensaios clínicos mostraram que a substituição enzimática com alfa glucosidase ácida recombinante poderia retardar o curso natural da doença e melhorar o prognóstico. Caso clínico: Masculino de 67 anos com diagnóstico de doença de Pompe há 4 anos, em tratamento com reabilitação física. Entrou no serviço por celulite de membro inferior direito que descompensa seu quadro de fundo levando-o a uma insuficiência respiratória severa. É introduzido na ventilação mecânica, sua evolução é tórpida devido a múltiplas sobreinfecções bacterianas associadas a ventilador. Após 7 meses em ventilação mecânica apesar de múltiplas tentativas de desmame, propõe-se o tratamento de substituição enzimática com alfa glucosidase ácida recombinante. Duas semanas depois inicia melhorias de parâmetros ventilatórios e é dado alta após 11 meses de estadia hospitalar. Conclusão: O tratamento de substituição enzimática com alfa glucosidase ácida recombinante, mostrou um efeito positivo na evolução do nosso paciente

Tratamiento con Tocilizumab en COVID-19 crítico: Reporte de un centro hospitalario [Breve]

Se realizó un estudio descriptivo en el que se evaluaron las características clínicas y laboratoriales en la evolución de pacientes con diagnóstico de síndrome de distrés respiratorio agudo (SDRA) secundario a infección por SARS-CoV-2 y que recibieron Tocilizumab. Veinticuatro pacientes recibieron Tocilizumab, la mayoría eran varones (95,8 %), la comorbilidad más frecuente fue obesidad (33,3 %), al momento de recibir Tocilizumab la mediana de PaO2/FiO2 fue 159,5 (RIC 114,5-255,3). Veintiún (87,5 %) pacientes presentaron mejoría clínica y 3 (12,5 %) fallecieron. Quince pacientes (62,5 %) desarrollaron hepatotoxicidad, la mayoría de grado 3 (33,3 %) y tres (12,5 %) pacientes presentaron injuria hepática grado 4. Once pacientes (45,8 %) presentaron sobreinfección bacteriana, siendo el germen más frecuente Acinetobacter baumannii. Luego de la administración de Tocilizumab más de la mitad de los pacientes presentó una reacción adversa, a pesar de ello la mortalidad fue baja y la mayoría tuvo una mejora clínica

CARACTERÍSTICAS Y FACTORES DE RIESGO PARA MORTALIDAD EN PACIENTES HOSPITALIZADOS POR COVID -19 EN UN HOSPITAL PUBLICO EN TACNA

ABSTRACT Objective: The objective of the study was to describe the clinical, laboratory and treatment characteristics of patients hospitalized for COVID-19 and to determine the risk factors for hospital mortality. Methods: Retrospective cohort study of adult patients hospitalized for COVID-19. Clinical, laboratory and treatment data were extracted from the medical records of patients admitted to Level III Daniel Alcides Carrión-Tacna Hospital. Survival analysis used the Cox proportional hazards model and crude and adjusted hazard ratios (HR) were calculated with their respective 95% confidence intervals (95% CI). Results: 351 patients were evaluated, 74.1% were men, the most common comorbidities were obesity (31.6%), hypertension (27.1%) and diabetes mellitus (24.5%). The median time of hospitalization was 8 days (IQR: 4-15). 32.9% died during follow-up. The multivariate analysis showed an increased risk of dying associated with age> = 65 years HR = 3.55 (95% CI: 1.70-7.40), increase in lactate dehydrogenase> 720 U / L HR = 2.08 (95% CI: 1.34-3.22), and oxygen saturation less than 90%, mainly when it was less than 80% RH = 4.07 (95% CI: 2.10-7.88). In addition, within the treatment, colchicine showed a protective effect HR = 0.46 (95% CI: 0.23-0.91). Conclusions: Risk factors for mortality from COVID-19 included being older than 65 years, having oxygen saturation less than 90%, and elevated lactate dehydrogenase> 720 U / L; colchicine treatment could improve the prognosis of patients.Resumen Objetivo: El objetivo del estudio fue describir las características clínicas, laboratoriales y de tratamiento en pacientes hospitalizados por COVID-19 y determinar los factores de riesgo para mortalidad hospitalaria. Métodos: Estudio de cohorte retrospectivo de pacientes adultos hospitalizados por COVID-19. Se extrajeron datos clínicos, laboratoriales y de tratamiento de historias clínicas de pacientes que ingresaron al Hospital Nivel III Daniel Alcides Carrión-Tacna. El análisis de supervivencia empleó el modelo de riesgos proporcionales de Cox y se calcularon Hazard Ratio (HR) crudos y ajustados con sus respectivos intervalos de confianza al 95% (IC95%). Resultados: Se evaluó a 351 pacientes, el 74.1% eran hombres, las comorbilidades más comunes fueron obesidad (31,6%), hipertensión (27.1%) y diabetes mellitus (24.5%). La mediana de tiempo de hospitalización fue 8 días (RIC: 4-15). El 32.9% falleció durante el seguimiento. El análisis multivariado mostró un aumento del riesgo de morir asociada a edad >=65 años HR=3.55 (IC95%:1.70-7.40), incremento de lactato deshidrogenasa >720 U/L HR=2.08 (IC95%:1.34-3.22), y la saturación de oxígeno menor de 90%, principalmente cuando fue menor de 80% HR=4.07 (IC95%:2.10-7.88). Además, dentro del tratamiento, colchicina mostró un efecto protector HR=0.46 (IC95%:0.23-0.91). Conclusiones: Los factores de riesgo para mortalidad por COVID-19 incluyeron ser mayor de 65 años, tener saturación de oxígeno menor de 90% y elevación del lactato deshidrogenasa >720 U/L; el tratamiento con colchicina podría mejorar el pronóstico de los pacientes

Ceguera cortical y amnesia global transitoria luego de arteriografía con iopamidol en miembro superior

ABSTRACT Iodinated contrast substances may cause different adverse events, most frequently renal involvement and hypersensitivity reactions. Transient cortical blindness and global amnesia are rarely described neurological complications after the administration of contrast substances. We report the case of a 63-year old patient with high blood pressure who presented with cyanosis and cold sensation affecting the second and third digits of his left hand. The patient underwent an arteriography of the left arm, where 50-mL of iopamidol was used as a contrast substance, and he immediately developed occipital headache associated to bilateral blurred vision that rapidly progressed to blindness. A cerebral computed tomography (CT) scan showed occipital subarachnoid hypodense areas, with no mass effect. Eighteen hours after the event, the patient showed retrograde amnesia with persistent amaurosis. His control cerebral CT scan did now show any focal disorder. The patient had a good progression, both bilateral amaurosis and headache subsided thirty hours after the event, and the patient was uneventfully discharged after ten days.RESUMEN Los medios de contraste iodados pueden presentar diferentes efectos adversos, siendo los más frecuentes daño renal y reacciones de hipersensibilidad. La ceguera cortical y amnesia global transitoria son complicaciones neurológicas raras descritas tras la administración de medios de contraste. Reportamos el caso de un paciente de 63 años, hipertenso que acude por cianosis, frialdad del segundo y tercer dedo de mano izquierda. Es sometido a arteriografía de miembro superior, usando 50 mL de iopamidol e inmediatamente desarrolla cefalea occipital asociada a visión borrosa bilateral que progresa rápidamente a ceguera; la tomografía cerebral reveló hiperdensidades subaracnoideas occipitales, sin efecto de masa. A las dieciocho horas del evento, el paciente presenta amnesia anterógrada con persistencia de amaurosis. Su tomografía cerebral de control no muestra trastornos focales. El paciente cursa con evolución favorable, la amaurosis bilateral y la cefalea ceden a las treinta horas del evento y es dado de alta sin mayores eventualidades a los diez días

Fetal death and its association with indicators of social inequality: 20-year analysis in Tacna, Peru.

ObjectiveThe aim of this study was to evaluate the rates of fetal mortality in a Peruvian hospital between 2001 and 2020 and to investigate the association of indicators of social inequality (such as access to prenatal care and education) with fetal mortality.MethodologyWe conducted a retrospective cohort study, including all pregnant women who attended a Peruvian hospital between 2001 and 2020. We collected data from the hospital's perinatal computer system. We used Poisson regression models with robust variance to assess the associations of interest, estimating adjusted relative risks (aRR) and their 95% confidence intervals (95% CI).ResultsWe analyzed data from 67,908 pregnant women (median age: 26, range: 21 to 31 years). Of these, 58.3% had one or more comorbidities; the most frequent comorbidities were anemia (33.3%) and urinary tract infection (26.3%). The fetal mortality ratio during the study period was 0.96%, with the highest rate in 2003 (13.7 per 1,000 births) and the lowest in 2016 (6.1 per 1,000 births), without showing a marked trend. Having less than six (aRR: 4.87; 95% CI: 3.99-5.93) or no (aRR: 7.79; 6.31-9.61) prenatal care was associated with higher fetal mortality compared to having six or more check-ups. On the other hand, higher levels of education, such as secondary education (aRR: 0.73; 0.59-0.91), technical college (aRR: 0.63; 0.46-0.85), or university education (aRR: 0.38; 0.25-0.57) were associated with a lower risk of fetal death compared to having primary education or no education. In addition, a more recent year of delivery was associated with lower fetal mortality.ConclusionOur study presents findings of fetal mortality rates that are comparable to those observed in Peru in 2015, but higher than the estimated rates for other Latin American countries. A more recent year of delivery was associated with lower fetal mortality, probably due to reduced illiteracy and increased access to health care between 2000 and 2015. The findings suggest a significant association between indicators of social inequality (such as access to prenatal care and education) with fetal mortality. These results emphasize the critical need to address the social and structural determinants of health, as well as to mitigate health inequities, to effectively reduce fetal mortality

Beta2-adrenergic receptor regulates cardiac fibroblast autophagy and collagen degradation

Autophagy is a physiological degradative process key to cell survival during nutrient deprivation, cell differentiation and development. It plays a major role in the turnover of damaged macromolecules and organelles, and it has been involved in the pathogenesis of different cardiovascular diseases. Activation of the adrenergic system is commonly associated with cardiac fibrosis and remodeling, and cardiac fibroblasts are key players in these processes. Whether adrenergic stimulation modulates cardiac fibroblast autophagy remains unexplored. In the present study, we aimed at this question and evaluated the effects of b2-adrenergic stimulation upon autophagy. Cultured adult rat cardiac fibroblasts were treated with agonists or antagonists of beta-adrenergic receptors (b-AR), and autophagy was assessed by electron microscopy, GFP-LC3 subcellular distribution, and immunowesternblot of endogenous LC3. The predominant expression of b2-ARs was determined and characterized by radioligand bind

Directed acyclic diagram to determine the possible causes of fetal death.

Directed acyclic diagram to determine the possible causes of fetal death.</p

Fig 1 -

A-C: Distribution of fetal mortality and percentage of pregnant women with adequate prenatal care and higher technical or university education, between 2001 and 2020.</p

Characteristics of the study population (n = 67,908).

Characteristics of the study population (n = 67,908).</p

Crude and adjusted regression model to determine risk factors for fetal death (n = 67 908).

Crude and adjusted regression model to determine risk factors for fetal death (n = 67 908).</p